Atrial Fibrillation, Familial, 1; Atfb1

Description

Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). Genetic Heterogeneity of Familial Atrial FibrillationATFB1 shows linkage to chromosome 10q22-q24. ATFB2 (OMIM ) maps to chromosome 6q. ATFB3 (OMIM ) is caused by mutation in the KCNQ1 gene (OMIM ) on chromosome 11. ATFB4 (OMIM ) is caused by mutation in the KCNE2 gene (OMIM ) on chromosome 21. Variants in a region of chromosome 4q25 are associated with ATFB5 (OMIM ). ATFB6 (OMIM ) is caused by mutation in the NPPA gene (OMIM ) on chromosome 1p36. ATFB7 (OMIM ) is caused by mutation in the KCNA5 gene (OMIM ) on chromosome 12p13. ATFB8 (OMIM ) maps to chromosome 16q22. ATFB9 (OMIM ) is caused by mutation in the KCNJ2 gene (OMIM ) on chromosome 17q24.3. ATFB10 (OMIM ) is caused by mutation in the SCN5A gene (OMIM ) on chromosome 3p21. ATFB11 (OMIM ) is caused by mutation in the GJA5 (OMIM ) gene on chromosome 1q21.1. ATFB12 (OMIM ) is caused by mutation in the ABCC9 gene (OMIM ) on chromosome 12p12.1. ATFB13 (OMIM ) is caused by mutation in the SCN1B gene (OMIM ) on chromosome 19q13. ATFB14 (OMIM ) is caused by mutation in the SCN2B gene (OMIM ) on chromosome 11q23. ATFB15 (OMIM ) is caused by mutation in the NUP155 gene (OMIM ) on chromosome 5p13. ATFB16 (see {613120}) is caused by mutation in the SCN3B gene (OMIM ) on chromosome 11q24. ATFB17 (see {611819}) is caused by mutation in the SCN4B gene (OMIM ) on chromosome 11q23.Olesen et al. (2014) analyzed 192 Danish Caucasian patients with onset of lone atrial fibrillation before the age of 40 years for the presence of rare variants in 14 AF-associated genes and found that 29 (7.6%) alleles harbored a very rare variant (minor allele frequency less than 1%), a significantly higher percentage than that found in 6,503 individuals in the NHLBI Exome Variant Server database (4.1%; p = 0.0012). Twenty-four of the 29 rare variants found in the lone AF patient cohort had previously been studied, with 23 (96%) showing abnormal ion channel function by patch-clamp analysis. Olesen et al. (2014) suggested that rare variants in AF susceptibility genes may play a role in the pathophysiology of AF.

Genes related to Atrial Fibrillation, Familial, 1; Atfb1

GATA4
ABCC9
PITX2
GATA5
NKX2-5
SCN4B
GJA5
KCNQ1
NUP155
NKX2-6
KCNE1
SCN1B
GATA6
KCNJ2
NPPA
KCNA5
SCN2B
SCN5A
MYL4
SCN3B
KCNE2

Clinical Features

Phenotypes and symptoms related to Atrial Fibrillation, Familial, 1; Atfb1

Atrial fibrillation
Thromboembolic stroke

Incidence and onset information

— Not enough data available about incidence and published cases.

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Atrial Fibrillation, Familial, 1; Atfb1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ciliopathies. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1 , (...) View the complete list with 73 more genes Panel GTR000552165 complete gene list EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, NODAL, WDR35, OFD1, PKD2, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, VHL Specificity 3 % Genes 10 %
Heterotaxia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. ACVR2B, CRELD1, LEFTY2, SHROOM3, CITED2, GATA4, GDF1, ZIC3, SMAD2, NKX2-5, DNAI1, DNAH5, DNAH11, FOXH1, NODAL Specificity 14 % Genes 10 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. AMHR2, AMH, MAMLD1, MAP3K1, ZFPM2, DHH, DYNC2H1, AKR1C2, B3GLCT, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, OPHN1, ATRX, LHCGR, SRY, DHCR7, ARX , (...) View the complete list with 6 more genes Panel GTR000528538 complete gene list AMHR2, AMH, MAMLD1, MAP3K1, ZFPM2, DHH, DYNC2H1, AKR1C2, B3GLCT, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, OPHN1, ATRX, LHCGR, SRY, DHCR7, ARX, AR, CYP17A1, CYB5A, HCCS, CYP11A1, WT1 Specificity 4 % Genes 5 %
Comprehensive Neonatal Diabetes Mutation Analysis. By Genetic Services Laboratory University of Chicago in United States. HYMAI, PLAGL1, ZFP57, MNX1, NKX2-2, EIF2AK3, GATA6, GATA4, FOXP3, PDX1, INS, KCNJ11, ABCC8, GCK Specificity 15 % Genes 10 %
Neonatal Diabetes Mellitus Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. ZFP57, MNX1, NKX2-2, EIF2AK3, GATA6, GATA4, FOXP3, PDX1, INS, KCNJ11, ABCC8, GCK Specificity 17 % Genes 10 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. AMHR2, AMH, MAMLD1, MAP3K1, ZFPM2, DHH, DYNC2H1, AKR1C2, B3GLCT, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, OPHN1, ATRX, LHCGR, SRY, DHCR7, ARX , (...) View the complete list with 6 more genes Panel GTR000558944 complete gene list AMHR2, AMH, MAMLD1, MAP3K1, ZFPM2, DHH, DYNC2H1, AKR1C2, B3GLCT, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, OPHN1, ATRX, LHCGR, SRY, DHCR7, ARX, AR, CYP17A1, CYB5A, HCCS, CYP11A1, WT1 Specificity 4 % Genes 5 %
Atrial septal defect type 2 (sequence analysis of GATA4 gene). By CGC Genetics in Portugal. GATA4 Specificity 100 % Genes 5 %
Isolated Nonsyndromic Congenital Heart Defects via the GATA4 Gene. By PreventionGenetics PreventionGenetics in United States. GATA4 Specificity 100 % Genes 5 %
Male Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141 , (...) View the complete list with 86 more genes Panel GTR000553213 complete gene list GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141, AXL, HS6ST1, SPRY4, DUSP6, FLRT3, CATSPER1, NANOS1, AURKC, PICK1, SPATA16, KISS1, TAC3, WDR11, FGF17, FSHB, LHB, AMHR2, AMH, MAMLD1, FEZF1, RSPO1, NSMF, MAP3K1, WNT4, SEMA3A, DHH, IL17RD, CYP19A1, GATA4, SRD5A2, LHX3, LHX4, HSD17B3, ADGRG2, NR5A1, SYCP3, DNAH1, SOX9, POR, SOX3, SEMA3E, SOX10, ATRX, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, PROP1, FGFR2, SRY, PCSK1, LEPR, LEP, CHD7, CFTR, ARX, AR, AIRE, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, CYP11A1, TRIM32, TTC8, MKKS, ARL6, WT1, STAR, FOXL2, HFE Specificity 1 % Genes 5 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...) View the complete list with 186 more genes Panel GTR000553215 complete gene list CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, STAG3, PRLR, PADI6, SOHLH1, DMRT2, DMRT1, SYCE1, CCDC141, AXL, HOXA4, HOXB6, BMP7, MCM9, ZP1, NUP107, HS6ST1, SPRY4, DUSP6, FLRT3, CATSPER1, NANOS1, AURKC, PICK1, SPATA16, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1, PDE4D, CUL7, TAC3, WDR11, FGF17, FSHB, LHB, AMHR2, AMH, MAMLD1, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, HFM1, MCM8, WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, WNT5A, UBR1, EPG5, B3GLCT, BMP4, EVC, CEP41, GATA4, EFNB1, SRD5A2, LHX3, LHX4, HSD17B3, ADGRG2, FGF10, NR5A1, SYCP3, RIPK4, FBXL4, DNAH1, TP63, GLI3, PCNT, SOX9, POR, SOX3, WDR35, FAT4, MED12, MID1, SEMA3E, SOX10, CLPP, SALL1, ZEB2, SETBP1, OPHN1, ATRX, FLNA, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, EIF2B4, EIF2B2, EIF2B3, LMNA, FIG4, EIF2B5, PEX1, PROP1, HBA1, GPC3, CDKN1C, FGFR2, SRY, SOS1, PTPN11, PCSK1, LEPR, LEP, EIF2B1, DHCR7, CREBBP, CHD7, CFTR, ARX, AR, AIRE, FGFR3, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, GALT, CYB5A, BCOR, HCCS, CYP11A1, DHCR24, RBBP8, EVC2, HSD3B2, TMEM70, CYP11B1, TRIM32, TTC8, MKKS, ARL6, PITX2, HSD17B4, HNF1B, WT1, STAR, FOXL2, HFE Specificity 1 % Genes 10 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...) View the complete list with 138 more genes Panel GTR000553216 complete gene list CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1, PDE4D, CUL7, TAC3, WDR11, FSHB, LHB, AMHR2, AMH, MAMLD1, FSHR, BMP15, PSMC3IP, WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, WNT5A, UBR1, EPG5, B3GLCT, BMP4, DHCR24, RBBP8, EVC2, EVC, CEP41, GATA4, EFNB1, SRD5A2, LHX3, LHX4, HSD17B3, FGF10, NR5A1, RIPK4, FBXL4, TP63, GLI3, PCNT, SOX9, POR, SOX3, WDR35, FAT4, MED12, MID1, SOX10, SALL1, ZEB2, SETBP1, OPHN1, ATRX, FLNA, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, LMNA, FIG4, PEX1, PROP1, HBA1, GPC3, CDKN1C, FGFR2, SRY, SOS1, PTPN11, PCSK1, LEPR, LEP, DHCR7, CREBBP, CHD7, ARX, AR, FGFR3, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYB5A, BCOR, HCCS, CYP11A1, HSD3B2, TMEM70, CYP11B1, TRIM32, TTC8, MKKS, ARL6, PITX2, HSD17B4, HNF1B, WT1, STAR, FOXL2, HFE Specificity 2 % Genes 10 %
Congenital heart disease NGS panel. By Connective Tissue Gene Tests in United States. NKX2-6, NR2F2, TAB2, TBX20, NOTCH2, GATA6, GATA4, GDF1, TBX5, NKX2-5, NOTCH1, TBX1, CHD7, JAG1, ELN Specificity 27 % Genes 20 %
Heart Diseases - panels. By MGZ Medical Genetics Center in Germany. TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...) View the complete list with 137 more genes Panel GTR000552431 complete gene list TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, TGFB3, ACTC1, BMPR2, DNAH11, KDM6A, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, ABCC9, TGFBR2, TGFBR1, NOTCH1, FOXH1, NODAL, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNE1, TBX1, ZEB2, KMT2D, SCN5A, KCNH2, LARGE1, CHKB, KCNJ2, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, SGCG, POMGNT1, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, CHD7, BRAF, KCNQ1, SDHA, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, CPT1A, COX15, TAZ, SCO2, GFM1, PNPLA2, SLC25A3, TMEM70, AGK, MTO1, FBN1, VCP, RAF1, CRYAB, DSP, JAG1, GNE, CPT2, ELN, GAA, ACADVL, AGL, ACADS, ACADM, ACAD9, AARS2, TTR Specificity 8 % Genes 58 %
Congenital heart defects panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. GJC1, TBX20, CFC1, ACVR2B, CRELD1, LEFTY2, GATA4, GDF1, ZIC3, GJA1, TBX5, MYH6, NKX2-5, ACTC1, MYH11, FOXH1, NODAL, MYBPC3, LDB3, MYH7 , (...) View the complete list with 14 more genes Panel GTR000509413 complete gene list GJC1, TBX20, CFC1, ACVR2B, CRELD1, LEFTY2, GATA4, GDF1, ZIC3, GJA1, TBX5, MYH6, NKX2-5, ACTC1, MYH11, FOXH1, NODAL, MYBPC3, LDB3, MYH7, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, TAZ, RAF1, JAG1, ELN Specificity 6 % Genes 10 %
Congenital Heart Defects Panel. By CeGaT GmbH in Germany. IRX4, TLL1, NKX2-6, NR2F2, NAA15, MED13L, TAB2, SMAD6, TBX3, TFAP2B, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, CFAP53, CFC1, GATA6, ACVR2B, CRELD1 , (...) View the complete list with 24 more genes Panel GTR000522462 complete gene list IRX4, TLL1, NKX2-6, NR2F2, NAA15, MED13L, TAB2, SMAD6, TBX3, TFAP2B, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, CFAP53, CFC1, GATA6, ACVR2B, CRELD1, LEFTY2, CITED2, GATA4, GDF1, ZIC3, SMAD2, GJA1, TBX5, MYH6, NKX2-5, ACTC1, NOTCH1, FOXH1, NODAL, RBM10, SEMA3E, TBX1, FLNA, MYH7, CHD7, JAG1, PITX2, FOXC1, ELN Specificity 16 % Genes 34 %
Inherited Cardiovascular Diseases and Sudden Death Panel. By Health in Code in Spain. FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...) View the complete list with 193 more genes Panel GTR000521465 complete gene list FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, APOA5, APOB, PCSK9, CETP, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, PRKG1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, NOTCH3, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, ENG, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, COL5A1, ALMS1, PMM2, SLC22A5, COX6B1, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, FBN1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, COL3A1, COL1A2, COL1A1, GAA, ATPAF2, ACADVL, AGL, ACADM, ACAD9, AARS2, TTR, HFE Specificity 8 % Genes 81 %
Cardiomyopathies Panel. By Health in Code in Spain. FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1 , (...) View the complete list with 129 more genes Panel GTR000521478 complete gene list FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, CASQ2, RYR2, ANK2, PKP2, ABCC9, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, SPRED1, LAMP2, KCNQ1, TBX1, FLNA, SCN5A, HCN4, KCNH2, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 7 % Genes 43 %
Cardiovascular Diseases_General Panel. By Health in Code in Spain. CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...) View the complete list with 360 more genes Panel GTR000530651 complete gene list CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1, IRX4, MCTP2, CYP3A5, NKX2-6, MRPL44, KCND2, MED13L, COA6, TRIM63, KLF10, PKP4, LRP6, INSIG2, CYP3A4, TNNI3K, TAB2, SMAD6, TFAP2B, SAR1B, MYLIP, CALM3, ASPH, CALR3, MIB1, TBX20, EIF2AK4, SLCO1B1, CAVIN4, CHRM2, PLTP, LIPC, APOC3, GATA5, ADAMTSL4, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, ZFPM2, AGPAT2, PLIN1, CIDEC, TBC1D4, NOTCH2, GJA5, NPPA, COL7A1, TDGF1, XK, CFC1, INSR, PDGFRA, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, ABCA1, LCAT, ABCG1, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, SCARB1, CETP, ACVR2B, CRELD1, LEFTY2, CITED2, NPC1L1, IER3IP1, EVC, GATA4, GDF1, ZIC3, TMPO, TXNRD2, OBSCN, CYP2D6, ABCG8, ABCG5, B3GAT3, FHL2, GJA1, EP300, TBX5, SALL4, NOS1AP, MFAP5, PRKG1, ZMPSTE24, SPEG, TOR1AIP1, AMPD1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, BMPR2, KCNA5, EFEMP2, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, ACVR1, CHST14, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FOXH1, NODAL, ABCB1, A2ML1, RRAS, RASA2, SPRED1, ZDHHC9, UPF3B, LAMP2, FOXP3, RASA1, LZTR1, CTNNB1, CACNA1C, EHMT1, FOXP1, VCL, MED12, KCNQ1, KCNE1, CACNA1D, TBX1, KANSL1, CACNA2D1, KMT2D, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, RYR1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, PDX1, INS, KCNJ11, CEL, NF1, CAV3, FKRP, NOTCH3, APOE, PSEN2, LMNA, CAPN3, SGCB, SGCA, MTTP, FKTN, ADAMTS2, ENG, SMAD4, BMPR1A, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LIPA, LEP, LDLR, KRAS, HRAS, GLA, FOXF1, DMD, CREBBP, CHD7, BRAF, DOLK, SDHA, COL5A2, COL5A1, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, PYGM, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, MEF2A, GFM1, DNAJC19, TSFM, PNPLA2, SLC25A3, MRPS22, SLC39A13, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, GPD1, LIAS, MRPL3, MTO1, FBN1, OPA3, RAF1, CRYAB, FOXRED1, GCK, SLC25A4, DLD, DSP, PCDH15, NPHP4, JAG1, PITX2, FOXC1, GLB1, GNPTAB, WFS1, CPT2, EYA4, ELN, HNF1B, PSEN1, ELAC2, COL3A1, COL1A2, COL1A1, PPARG, NEUROD1, HNF1A, GAA, B4GALT7, ATPAF2, ATP7A, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HNF4A, HFE Specificity 5 % Genes 91 %
Atrial fibrillation Panel. By Health in Code in Spain. GREM2, NKX2-6, TNNI3K, GATA5, KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3 , (...) View the complete list with 23 more genes Panel GTR000530661 complete gene list GREM2, NKX2-6, TNNI3K, GATA5, KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, LMNA, ZFHX3, PITX2, TTR Specificity 45 % Genes 91 %
Arrhythmia General Panel. By Health in Code in Spain. GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...) View the complete list with 198 more genes Panel GTR000530668 complete gene list GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, AGPAT2, GJA5, NPPA, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, GJA1, TBX5, NOS1AP, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, KCNK3, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, SCN4B, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, PITX2, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 9 % Genes 91 %
Congenital heart diseases Panel. By Health in Code in Spain. ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6 , (...) View the complete list with 56 more genes Panel GTR000530669 complete gene list ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6, ACVR2B, CRELD1, LEFTY2, CITED2, EVC, GATA4, GDF1, ZIC3, GJA1, EP300, TBX5, SALL4, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, ACVR1, MYH11, ACTA2, SMAD3, NOTCH1, FOXH1, NODAL, EHMT1, FOXP1, MED12, TBX1, KANSL1, KMT2D, FLNA, MYBPC3, MYH7, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, CHD7, BRAF, RAF1, NPHP4, JAG1, PITX2, FOXC1, EYA4, ELN Specificity 10 % Genes 34 %
qChip. By Quantitative Genomic Medicine Laboratories, SL in Spain. SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...) View the complete list with 106 more genes Panel GTR000521292 complete gene list SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA, SATB2, EP300, TBX5, SALL4, LHX4, NR5A1, SH2D1A, NKX2-5, TP63, MITF, SNRPN, GLI3, TGFBR2, TGFBR1, ZIC2, TGIF1, SOX9, TWIST1, IL1RAPL1, SOX3, CLCNKA, EHMT1, GATA3, PAX3, SALL1, SHANK3, ZEB2, PAK3, OFD1, ADGRG1, PAFAH1B1, RELN, SIX3, EMX2, DCX, PKD1, COL4A5, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, ANOS1, CASR, SHOX, NR0B1, NF1, AHI1, MAPT, SCN1A, PMP22, BTK, SMAD4, BMPR1A, NF2, PTCH1, NSD1, NIPBL, SMC1A, TSC2, MAP2K2, SRY, SOS1, RUNX2, RAI1, PTPN11, PLP1, MAP2K1, KRAS, DHCR7, CHD7, CDKL5, BRAF, ARX, LMX1B, SOX2, TIMM8A, GK, HCCS, OTC, RS1, FBN1, MECP2, SHH, CEP290, NPHP1, NDP, JAG1, PITX2, OCRL, ELN, HNF1B, LEMD3, RB1, PAX6, WT1, APP, OCA2, COL2A1, EYA1, FOXL2, TP53, PTEN, APC, UBE3A, FMR1 Specificity 3 % Genes 15 %
qGenEx Sex development disorders. By Quantitative Genomic Medicine Laboratories, SL in Spain. CBX2, DMRT1, NR3C1, AMHR2, AMH, MAMLD1, WDR60, NEK1, FRAS1, RSPO1, MAP3K1, ZFPM2, TSPYL1, WNT4, ROR2, DHH, HOXA13, FREM2, GRIP1, DYNC2H1 , (...) View the complete list with 28 more genes Panel GTR000552858 complete gene list CBX2, DMRT1, NR3C1, AMHR2, AMH, MAMLD1, WDR60, NEK1, FRAS1, RSPO1, MAP3K1, ZFPM2, TSPYL1, WNT4, ROR2, DHH, HOXA13, FREM2, GRIP1, DYNC2H1, CYP19A1, AKR1C2, TCTN3, CEP41, GATA4, B9D1, SRD5A2, HSD17B3, NR5A1, RIPK4, SOX9, POR, SOX3, ATRX, LHCGR, NR0B1, SRY, DHCR7, ARX, AR, CYP17A1, CYB5A, CYP11A1, HSD3B2, CYP11B1, MKKS, WT1, STAR Specificity 3 % Genes 5 %
Invitae Congenital Heart Defects and Heterotaxy Panel. By Invitae in United States. MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5 , (...) View the complete list with 62 more genes Panel GTR000528542 complete gene list MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, NOTCH1, FOXH1, NODAL, TBX1, OFD1, NF1, GPC3, NSD1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CHD7, BRAF, ALMS1, BBS10, MKS1, BCOR, CCDC39, RPGR, RAF1, TTC8, CEP290, NPHP3, JAG1, ELN, INVS Specificity 4 % Genes 15 %
Invitae Congenital Heart Disease Panel. By Invitae in United States. HAND1, MEIS2, NKX2-6, NR2F2, MED13L, SMAD6, ZFPM2, GATA6, ACVR2B, CRELD1, LEFTY2, GATA4, GDF1, ZIC3, GJA1, TBX5, MYH6, NKX2-5, ACTC1, NOTCH1 , (...) View the complete list with 22 more genes Panel GTR000551740 complete gene list HAND1, MEIS2, NKX2-6, NR2F2, MED13L, SMAD6, ZFPM2, GATA6, ACVR2B, CRELD1, LEFTY2, GATA4, GDF1, ZIC3, GJA1, TBX5, MYH6, NKX2-5, ACTC1, NOTCH1, FOXH1, NODAL, TBX1, GPC3, NSD1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CHD7, BRAF, ALMS1, BCOR, RAF1, JAG1, ELN Specificity 10 % Genes 20 %
GATA4. By Fulgent Genetics Fulgent Genetics in United States. GATA4 Specificity 100 % Genes 5 %
Atrioventricular septal defect 4. By Bioarray in Spain. GATA4 Specificity 100 % Genes 5 %
Solid Tumor Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2 , (...) View the complete list with 102 more genes Panel GTR000515819 complete gene list BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2, KEAP1, ERBB4, PPP2R1A, FAT1, RXRA, MYC, MN1, AFF3, ERBB2, DDR2, CDK12, CCND1, MAP3K3, KDR, FLT1, PDGFRB, CDK6, NTRK2, NOTCH2, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, FLT3, AKT2, POLD1, CSF1R, PIK3CA, GATA4, CDKN1B, BAP1, FANCA, SMAD2, GNAS, KIT, FLT4, TEK, SMARCB1, SMARCA4, ERBB3, TERT, TGFBR2, NOTCH1, MTOR, SPRED1, CTNNB1, MED12, ERCC2, KDM5C, ATRX, SETD2, KMT2D, FGFR1, NF1, NTRK1, BRIP1, SMAD4, CHEK2, MET, CDKN2A, STK11, CDH1, PALB2, NF2, ATM, ALK, TSC1, TSC2, MAP2K2, RIT1, FGFR2, SOS1, SHOC2, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, AR, FGFR3, IDH2, RAF1, RET, RB1, WT1, PPARG, FOXL2, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 5 %
Head & Neck Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. RHOA, BCL2L1, PIK3C2B, MCL1, KMT2C, NFE2L2, RAC1, FAT1, AFF3, ERBB2, CCND1, NOTCH2, PIK3R1, AKT1, AKT3, FBXW7, EGFR, AKT2, PIK3CA, GATA4 , (...) View the complete list with 21 more genes Panel GTR000553952 complete gene list RHOA, BCL2L1, PIK3C2B, MCL1, KMT2C, NFE2L2, RAC1, FAT1, AFF3, ERBB2, CCND1, NOTCH2, PIK3R1, AKT1, AKT3, FBXW7, EGFR, AKT2, PIK3CA, GATA4, ASXL1, EP300, KDM6A, TGFBR2, NOTCH1, MTOR, KMT2D, NF1, SMAD4, CDKN2A, ATM, NSD1, NRAS, KRAS, HRAS, RB1, TP53, PTEN, APC, BRCA2, BRCA1 Specificity 3 % Genes 5 %
Familial Atrial Septal Defect NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. TBX20, GATA4, MYH6, NKX2-5, ACTC1, MYH7 Specificity 34 % Genes 10 %
GATA4 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. GATA4 Specificity 100 % Genes 5 %
NeoTYPE® Discovery Profile for Solid Tumors. By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States. IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...) View the complete list with 295 more genes Panel GTR000558437 complete gene list IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5, EPHA7, FGF6, ERRFI1, ERG, TENT5C, FRS2, GABRA6, FUBP1, CD274, CDH4, CDK8, CCND3, CDKN1A, GSK3B, GRM3, IRF4, IRS2, HSD3B1, PIK3CG, CRKL, PIK3CB, EP300-AS1, AXIN1, CRLF2, INHBA, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, IGF2, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, CIC, AXL, NUP93, FAT1, RNF43, CDKN2C, MYC, BCL6, SMO, CDKN2B, RARA, SNCAIP, CBFB, ERBB2, DDR2, MDM2, IGF1R, ABL2, CDK12, TBX3, BCL2, CCND1, KAT6A, KEL, CD79B, CD79A, CUL3, PLCG2, LYN, TNFAIP3, KDR, FLT1, CYLD, WISP3, RAD51, PDGFRB, DICER1, CTCF, CDK6, RUNX1T1, SRC, MAP3K1, CCND2, NTRK2, CARD11, NOTCH2, PRKDC, PIK3R1, RANBP2, NFKBIA, SPTA1, FAS, AKT1, AKT3, PIK3R2, GNA11, POLE, IL7R, BCORL1, FBXW7, IKZF1, MYD88, PDGFRA, SF3B1, STAG2, TET2, U2AF1, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, GATA6, AKT2, POLD1, CSF1R, MYCN, PIK3CA, GATA4, VEGFA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, FGF10, FLT4, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, TERT, TERC, CTNNA1, KDM6A, MITF, EZH2, DNMT3A, TGFBR2, SMAD3, NOTCH1, ATR, MTOR, SOX9, TAF1, RBM10, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, HGF, KDM5C, PAK3, ATRX, SETD2, MAGI2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, NF1, NOTCH3, NTRK1, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, PRKN, BCOR, AMER1, SDHB, IDH2, FH, RAF1, SDHC, RET, RB1, WT1, HNF1A, FOXL2, TP53, RUNX1, IDH1-AS1, GID4, ZNF703, MEF2B, AURKA, TOP1, FGF4, FGF19, BCL2L1, H3F3A, BTG1, ADGRA2, ACVR1B, QKI, PRSS8, SYK, SPEN, SLIT2, SOCS1, SPOP, STAT4, XPO1, ZBTB2, ZNF217, TNFRSF14, TOP2A, PIK3C2B, PRKCI, PREX2, PRDM1, JAK1, JUN, KLHL6, IRF2, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 10 %
Tempus xT assay. By Tempus Labs, Inc. in United States. HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...) View the complete list with 571 more genes Panel GTR000558436 complete gene list HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4, SMARCA1, SUZ12, NCOR2, RHOA, BCL2L1, H3F3A, BCL11B, HLA-A, ETV4, FOXO1, ETV1, BTG1, ACVR1B, ABCC3, PTPRD, QKI, RAD51B, PTPN13, RPS6KB1, SGK1, SCG5, RSF1, SLC47A2, STAT6, SYK, TCL1A, SPEN, SLIT2, SOCS1, STAT5A, SPOP, TANC1, STAT4, LRP1B, LEF1, BCL2L11, ARHGAP35, AURKB, LMO1, ARHGAP26, C11orf65, MDM4, MAP2K4, C3orf70, MCL1, BCLAF1, EMSY, BCL7A, MKI67, VSIR, CHEK1, NUDT15, NUP98, PAK1, DIS3, PCBP1, PDCD1, PBRM1, DAXX, PDCD1LG2, EPHB1, EBF1, DOT1L, ECT2L, ELF3, EPHA7, FGF6, ERRFI1, FBXO11, ETS2, FGF7, FGF1, ERG, FHIT, TENT5C, FDPS, FGF5, ETS1, FGF2, GEN1, FNTB, FRS2, FOXO3, FUBP1, CD274, NCOR1, CDK8, CCND3, CDKN1A, CD22, NQO1, MYB, CBR3, GPS2, GRM3, PTPN22, RAD54L, TCF7L2, RNF139, ZNF750, EPHB2, DIRC2, IRF1, IL6R, IFNAR2, IRF4, IRS2, GSTP1, FOXA1, PIK3CG, CRKL, PIK3CB, MAPK1, PAX7, TAP2, FCGR3A, EWSR1, AXIN1, CRLF2, TNF, BCL10, PRSS2, XRCC3, CYP3A5, RINT1, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, HLA-DRB1, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, MAP3K7, CIC, CHD4, AXL, CD70, MAD2L2, FAT1, RXRA, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, PTCH2, CEP57, CDKN2B, EPHA2, MLLT3, TCF3, RARA, ERCC1, CBFB, ERBB2, MSH3, PML, MAFB, EGF, PALLD, DDR2, MDM2, ETV5, MLH3, MALT1, ARID5B, CDK12, ZNF471, ZNF620, XRCC1, TIGIT, XPO1, ZNF217, TNFRSF17, TNFRSF14, TNFRSF9, TOP2A, UGT1A9, TMPRSS2, PRCC, PIK3C2B, PPP2R2A, PREX2, PPP1R15A, PIM1, PRDM1, PIAS4, HLA-DQB2, HLA-DQA2, HAS3, HLA-DOB, HLA-DMA, HLA-DMB, HDAC1, HLA-DOA, HLA-E, HLA-DPB1, HLA-DPA1, HIST1H1E, HAVCR2, HIST1H4E, HDAC2, HIF1A, HLA-DRA, HLA-F, HSPH1, AJUBA, IFIT2, IFNAR1, IDO1, JAK1, IFIT3, JUN, KLLN, IFIT1, KLHL6, IRF2, IKBKE, ING1, INPP4B, IL15, HSP90AA1, ITPKB, TBX3, IFNL3, HDAC4, BCL2, SLC26A3, CCND1, FGF9, UMPS, XPC, MIB1, KAT6A, DDX3X, NTHL1, HOXB13, TYMS, HLA-DQA1, KEL, HLA-B, HLA-DQB1, FCGR2A, CD79B, CD79A, B2M, PLCG2, LYN, TNFAIP3, KDR, FLT1, FLG, CYLD, NSD2, GALNT12, BUB1B, RAD51, XPA, ERCC5, KMT2B, PDGFRB, DICER1, PAX8, UBE2T, EGLN1, WRN, CTCF, CDK6, RUNX1T1, SRC, ASNS, MAP3K1, DYNC2H1, CCND2, IL2RA, NTRK2, CARD11, POT1, TMEM173, TRAF3, EPOR, NOTCH2, MS4A1, CD19, PIK3R1, IL10RA, CTLA4, RANBP2, CIITA, NFKBIA, PIK3CD, BCR, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, AXIN2, POLE, ABRAXAS1, IL7R, IFNGR2, IFNGR1, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, GNAQ, GATA6, AKT2, GREM1, POLD1, APOB, CSF1R, MYCN, PIK3CA, GATA4, RPS15, ERCC4, VEGFA, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, NOP10, NHP2, CTC1, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, H19, CTRC, PRSS1, SPINK1, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, ABL2, DDB2, DIS3L2, MTAP, POLH, KMT2A, SMARCE1, ARID2, ERCC6, ERBB3, TPM1, NKX2-1, TERT, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, MYH11, ACTA2, TGFBR2, SMAD3, NOTCH1, ATR, ABCB1, MTOR, SPRED1, SOX9, TAF1, RBM10, DKC1, FANCB, SEC23B, RASA1, RPL5, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, ERCC3, ERCC2, HGF, SETBP1, KDM5C, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, CASR, FGF8, FGFR1, NF1, NOTCH3, NTRK1, LMNA, DNM2, DPYD, BTK, MPL, UGT1A1, G6PD, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, FGFR2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, CFTR, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, TMEM127, ZFHX3, SOX2, PRKN, BCOR, AMER1, TAP1, ATIC, TUSC3, SDHB, SOD2, IDH2, FH, RAF1, SDHC, KIF1B, CYP1B1, CASP8, MTRR, MC1R, RET, HNF1B, SDHAF2, RB1, WT1, RAD51D, HNF1A, FOXL2, ATP7B, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, MTHFR, BRCA2, BRCA1 Specificity 1 % Genes 10 %
Syndromic disorders of sexual development: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. GATA4, SOX9, POR, ATRX, DHCR7, ARX, WT1 Specificity 15 % Genes 5 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. ZFP57, ZBTB20, TRMT10A, DNAJC3, MNX1, NKX2-2, DUT, IL2RA, APPL1, LRBA, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6 , (...) View the complete list with 21 more genes Panel GTR000560755 complete gene list ZFP57, ZBTB20, TRMT10A, DNAJC3, MNX1, NKX2-2, DUT, IL2RA, APPL1, LRBA, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, HADH, PCBD1, IER3IP1, GATA4, CP, FOXP3, PDX1, INS, KCNJ11, CEL, ABCC8, CDKN1C, AIRE, STAT3, CISD2, GLUD1, GCK, WFS1, NEUROD1 Specificity 5 % Genes 10 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel. By Genetic Services Laboratory University of Chicago in United States. ZFP57, ZBTB20, TRMT10A, DNAJC3, MNX1, NKX2-2, DUT, IL2RA, APPL1, LRBA, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6 , (...) View the complete list with 21 more genes Panel GTR000501103 complete gene list ZFP57, ZBTB20, TRMT10A, DNAJC3, MNX1, NKX2-2, DUT, IL2RA, APPL1, LRBA, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, HADH, PCBD1, IER3IP1, GATA4, CP, FOXP3, PDX1, INS, KCNJ11, CEL, ABCC8, CDKN1C, AIRE, STAT3, CISD2, GLUD1, GCK, WFS1, NEUROD1 Specificity 5 % Genes 10 %
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH , (...) View the complete list with 52 more genes Panel GTR000528876 complete gene list WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, AKR1C2, UBR1, TCTN3, B3GLCT, BMP4, DHCR24, CEP41, GATA4, SRD5A2, HSD17B3, NR5A1, SCARF2, RIPK4, SOX9, POR, FAT4, SALL1, SETBP1, OPHN1, ATRX, ANOS1, KISS1R, LHCGR, NR0B1, LMNA, FIG4, CDKN1C, SRY, PTPN11, DHCR7, CREBBP, CHD7, ARX, AR, CYP17A1, MKS1, CYB5A, BCOR, HCCS, CYP11A1, HSD3B2, CYP11B1, MKKS, WT1, STAR Specificity 2 % Genes 5 %
CardioNext with TTN. By Ambry Genetics in United States. TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 65 more genes Panel GTR000560510 complete gene list TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, PTPN11, GLA, DMD, FXN, TAZ, RAF1, CRYAB, DSP, JAG1, EYA4, TTR Specificity 15 % Genes 58 %
CustomNext: Cardio. By Ambry Genetics in United States. TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP , (...) View the complete list with 86 more genes Panel GTR000560528 complete gene list TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, SMAD4, PTPN11, PLOD1, GLA, DMD, COL5A2, COL5A1, FXN, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, JAG1, EYA4, COL3A1, TTR Specificity 12 % Genes 58 %
GATA4 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. GATA4 Specificity 100 % Genes 5 %
Congenital heart disease Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. NKX2-6, NR2F2, TAB2, TBX20, NOTCH2, GATA6, GATA4, GDF1, TBX5, NKX2-5, NOTCH1, TBX1, CHD7, JAG1, ELN Specificity 27 % Genes 20 %
Congenital heart disease Comprehensive panel. By Connective Tissue Gene Tests in United States. NKX2-6, NR2F2, TAB2, TBX20, NOTCH2, GATA6, GATA4, GDF1, TBX5, NKX2-5, NOTCH1, TBX1, CHD7, JAG1, ELN Specificity 27 % Genes 20 %
Atrial septal defect type 2. By Centogene AG - the Rare Disease Company in Germany. GATA4 Specificity 100 % Genes 5 %
Congenital heart defects panel. By Centogene AG - the Rare Disease Company in Germany. TBX20, ZFPM2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, NKX2-5, NOTCH1, FOXH1, TBX1 Specificity 25 % Genes 15 %
Auricular Fibrillation Panel. By Health in Code in Spain. KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2 , (...) View the complete list with 18 more genes Panel GTR000521461 complete gene list KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, LMNA, PITX2, TTR Specificity 45 % Genes 81 %
Dilated Cardiomyopathy Panel. By Health in Code in Spain. FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1 , (...) View the complete list with 61 more genes Panel GTR000521471 complete gene list FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3, RYR2, PKP2, ABCC9, KCNJ8, LAMP2, SCN5A, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, PTPN11, GLA, DMD, BRAF, DOLK, ALMS1, SLC22A5, TAZ, DNAJC19, RAF1, CRYAB, DSP, GLB1, EYA4, PSEN1, GAA, TTR, HFE Specificity 8 % Genes 29 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease. By Health in Code in Spain. FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL , (...) View the complete list with 121 more genes Panel GTR000521473 complete gene list FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, TGFB3, MYLK2, ACTC1, PDLIM3, KCNA5, KCNK3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, FLNC, MYH7, DES, TTN, CAV3, LMNA, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, DSP, PITX2, GLB1, GNPTAB, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 13 % Genes 81 %
Congenital Heart Diseases Panel. By Health in Code in Spain. TBX20, GJA5, GATA6, CRELD1, GATA4, GJA1, TBX5, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, TBX1 , (...) View the complete list with 19 more genes Panel GTR000521480 complete gene list TBX20, GJA5, GATA6, CRELD1, GATA4, GJA1, TBX5, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, TBX1, FLNA, MYBPC3, MYH7, TTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1, JAG1, PITX2, EYA4, ELN Specificity 13 % Genes 24 %
Cardiomyopathies General Panel. By Health in Code in Spain. NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5 , (...) View the complete list with 153 more genes Panel GTR000530674 complete gene list NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5, OBSL1, AGPAT2, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, RYR2, ANK2, PKP2, ABCC9, KCNJ8, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, KCNQ1, SCN5A, HCN4, KCNH2, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 5 % Genes 39 %
Isolated Nonsyndromic Congenital Heart Disease/Defects. By Clinical Genomics Maastricht University Medical Centre in Netherlands. TBX20, GATA4, NKX2-5 Specificity 67 % Genes 10 %
Familial Congenital Heart Disease Full Gene Sequencing Panel. By Integrated Genetics Westborough Integrated Genetics in United States. GATA4, TBX5, NKX2-5, CHD7 Specificity 50 % Genes 10 %
Pan-Cardio NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2 , (...) View the complete list with 81 more genes Panel GTR000506437 complete gene list MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, SYNE1, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, PTPN11, GLA, DMD, DOLK, SDHA, FXN, COX15, TAZ, NDUFAF1, MRPL3, RAF1, CRYAB, DSP, JAG1, EYA4, GAA, TTR Specificity 14 % Genes 67 %
Atrial Fibrillation NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GJA5, NPPA, NUP155, GATA6, GATA4, KCNA5, SCN4B, KCNJ5, KCNE2, RYR2, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...) View the complete list with 3 more genes Panel GTR000509335 complete gene list GJA5, NPPA, NUP155, GATA6, GATA4, KCNA5, SCN4B, KCNJ5, KCNE2, RYR2, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, LMNA Specificity 70 % Genes 77 %
Congenital Structural Heart Disease Panel. By Blueprint Genetics in Finland. CDK13, HAND1, TLL1, PRKD1, MEIS2, NKX2-6, NR2F2, NAA15, CHD4, TGDS, ADAMTS17, TAB2, TFAP2B, TBX20, ADAMTS10, EIF2AK4, GATA5, ZFPM2, NOTCH2, GJA5 , (...) View the complete list with 42 more genes Panel GTR000552653 complete gene list CDK13, HAND1, TLL1, PRKD1, MEIS2, NKX2-6, NR2F2, NAA15, CHD4, TGDS, ADAMTS17, TAB2, TFAP2B, TBX20, ADAMTS10, EIF2AK4, GATA5, ZFPM2, NOTCH2, GJA5, ABL1, GATA6, ACVR2B, CRELD1, LEFTY2, MYCN, GATA4, GDF1, ZIC3, B3GAT3, GJA1, CTC1, PPP1CB, EFTUD2, TBX5, SALL4, NKX2-5, ACTC1, BMPR2, ACVR1, ACTA2, NOTCH1, NODAL, RBM10, HOXA1, ACTG1, ACTB, TBX1, FLNA, NF1, ENG, GPC3, NSD1, CBL, SOS2, HRAS, DHCR7, CHD7, BCOR, JAG1, PITX2, ELN Specificity 12 % Genes 34 %
Abnormal Genitalia/ Disorders of Sex Development Panel. By Blueprint Genetics in Finland. MKRN3, AMHR2, AMH, MAMLD1, IRF6, FRAS1, RSPO1, MAP3K1, ZFPM2, DHH, IL17RD, DYNC2H1, CYP19A1, CEP41, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, POR , (...) View the complete list with 29 more genes Panel GTR000552632 complete gene list MKRN3, AMHR2, AMH, MAMLD1, IRF6, FRAS1, RSPO1, MAP3K1, ZFPM2, DHH, IL17RD, DYNC2H1, CYP19A1, CEP41, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, POR, ERCC3, ATRX, CYP21A2, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, NR0B1, FIG4, CDKN1C, SRY, DHCR7, CREBBP, CHD7, ARX, AR, CYP17A1, MKS1, BCOR, CYP11A1, HSD3B2, CYP11B1, WT1, STAR Specificity 3 % Genes 5 %
Atrial septal defect 2. By Bioarray in Spain. GATA4 Specificity 100 % Genes 5 %
CONGENITAL HEART DEFECTS: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. MED13L, TAB2, TBX20, ZFPM2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, ZIC3, MYH6, NKX2-5, ACTC1, NOTCH1, TBX1, ELN Specificity 18 % Genes 15 %
CONGENITAL HEART DEFECTS. By Laboratorio de Genetica Clinica SL in Spain. MED13L, CFC1, CITED2, GATA4, GDF1 Specificity 20 % Genes 5 %
Atrioventricular Septal Defect Type 4 , Sequencing GATA4 Gene. By Reference Laboratory Genetics in Spain. GATA4 Specificity 100 % Genes 5 %
Comprehensive Cardiac Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 87 more genes Panel GTR000556277 complete gene list DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, A2ML1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, SLC22A5, TAZ, TMEM70, MTO1, RAF1, CRYAB, DSP, GAA, ACADVL, AGL, TTR Specificity 12 % Genes 58 %
Dilated cardiomyopathy - familial variant analysis. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada. CTF1, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3 , (...) View the complete list with 5 more genes Panel GTR000560795 complete gene list CTF1, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3, MYH7, DES, TTN, LMNA, TAZ Specificity 4 % Genes 5 %
Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 92 more genes Panel GTR000528536 complete gene list TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, SCN4B, AKAP9, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, FXN, CBS, SURF1, COX15, TAZ, SCO2, FBN1, RAF1, CRYAB, DSP, EYA4, COL3A1, GAA, TTR Specificity 9 % Genes 43 %
Dilated Cardiomyopathy Panel (30 genes). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 10 more genes Panel GTR000500930 complete gene list VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, TAZ, CRYAB Specificity 7 % Genes 10 %
DCM and DMD related Cardiomyopathy. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 11 more genes Panel GTR000521335 complete gene list VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, DMD, TAZ, CRYAB Specificity 7 % Genes 10 %
ABCC9. By Institute for Human Genetics University Clinic Freiburg in Germany. ABCC9 Specificity 100 % Genes 5 %
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes). By ARUP Laboratories, Molecular Genetics and Genomics in United States. MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP , (...) View the complete list with 65 more genes Panel GTR000520063 complete gene list MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, TGFB3, MYLK2, ACTC1, ILK, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, SYNE1, MYBPC3, LDB3, MYOT, MYH7, DES, TTN, CAV3, FKRP, LMNA, SGCG, SGCB, SGCA, FKTN, GLA, DMD, FXN, COX15, TAZ, SCO2, SLC25A4, DSP, EYA4, GAA, TTR Specificity 12 % Genes 48 %
Comprehensive Cardiomyopathy Panel. By GeneDx in United States. MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, MT-ND5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1 , (...) View the complete list with 56 more genes Panel GTR000520445 complete gene list MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, MT-ND5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, RYR2, PKP2, ABCC9, LAMP2, MT-TS2, MT-TS1, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, MT-ND6, MT-ND1, MT-TK, MT-TL1, LMNA, FKTN, MAP2K2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, TAZ, RAF1, CRYAB, DSP, TTR Specificity 3 % Genes 10 %
DCMNext with TTN. By Ambry Genetics in United States. TBX20, TMPO, TXNRD2, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, ABCC9 , (...) View the complete list with 16 more genes Panel GTR000560529 complete gene list TBX20, TMPO, TXNRD2, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, ABCC9, LAMP2, SCN5A, TCAP, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, DMD, TAZ, RAF1, EYA4, TTR Specificity 9 % Genes 15 %
Lymphedema NGS Multi-Gene Panel (36 Genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CDK19, ITGA9, PEPD, TUBGCP6, GJA1, FLT4, PTPN14, KIF11, VEGFC, ABCC9, NAGA, SPRED1, CCBE1, SOX18, FAT4, FOXC2, HGF, RELN, GATA2, MET , (...) View the complete list with 16 more genes Panel GTR000529113 complete gene list CDK19, ITGA9, PEPD, TUBGCP6, GJA1, FLT4, PTPN14, KIF11, VEGFC, ABCC9, NAGA, SPRED1, CCBE1, SOX18, FAT4, FOXC2, HGF, RELN, GATA2, MET, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, GJC2, BRAF, PMM2, MPI, ALG8, RAF1 Specificity 3 % Genes 5 %
ABCC9. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ABCC9 Specificity 100 % Genes 5 %
Dilated cardiomyopathy (CMD, NGS panel for 22 genes). By CGC Genetics in Portugal. VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, SGCD, TCAP, MYBPC3, LDB3, MYH7, DES , (...) View the complete list with 2 more genes Panel GTR000509953 complete gene list VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, SGCD, TCAP, MYBPC3, LDB3, MYH7, DES, TTN, LMNA Specificity 5 % Genes 5 %
Cardiomyopathy, dilated 1O (sequence analysis of ABCC9 gene). By CGC Genetics in Portugal. ABCC9 Specificity 100 % Genes 5 %
Cantu syndrome (sequence analysis of ABCC9 gene). By CGC Genetics in Portugal. ABCC9 Specificity 100 % Genes 5 %
Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes). By CGC Genetics in Portugal. TNNI3K, ALG10, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...) View the complete list with 39 more genes Panel GTR000525172 complete gene list TNNI3K, ALG10, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, LMNA, GLA, DSP Specificity 16 % Genes 43 %
Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes). By CGC Genetics in Portugal. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1 , (...) View the complete list with 16 more genes Panel GTR000525213 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SGCD, TCAP, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, LMNA, GLA, DSP Specificity 3 % Genes 5 %
Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KCNE5, GJA5, NPPA, KCNA5, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCND3, KCNJ2 Specificity 80 % Genes 58 %
Comprehensive Cardiology Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP , (...) View the complete list with 144 more genes Panel GTR000553680 complete gene list ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP, CRELD1, ZIC3, TMPO, ABCG8, ABCG5, FHL2, TBX5, SALL4, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, ILK, PDLIM3, KCNA5, EFEMP2, LTBP2, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, SMAD3, NOTCH1, TGFB2, NODAL, LAMP2, CACNA1C, KCNQ1, KCNE1, MYO6, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, RYR1, SELENON, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, APOE, LMNA, HSPB8, SGCG, FKTN, PRKAR1A, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, ALMS1, CBS, COX15, TAZ, SCO2, DNAJC19, GCKR, FBN1, RAF1, HADHA, CRYAB, SLC25A4, DSP, JAG1, EYA4, ELN, COL3A1, GAA, TTR, HFE Specificity 9 % Genes 67 %
Cantu Syndrome via the ABCC9 Gene. By PreventionGenetics PreventionGenetics in United States. ABCC9 Specificity 100 % Genes 5 %
Brugada syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 6 more genes Panel GTR000559005 complete gene list KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, CAV3, GLA, GAA Specificity 20 % Genes 24 %
Brugada syndrome and related disorders NGS panel. By Connective Tissue Gene Tests in United States. KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 6 more genes Panel GTR000559015 complete gene list KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, CAV3, GLA, GAA Specificity 20 % Genes 24 %
Cardiac channelopathy Deletion/ Duplication panel. By Connective Tissue Gene Tests in United States. TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...) View the complete list with 21 more genes Panel GTR000559020 complete gene list TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 25 % Genes 48 %
Brugada syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 6 more genes Panel GTR000559022 complete gene list KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, CAV3, GLA, GAA Specificity 20 % Genes 24 %
Cardiac channelopathy Comprehensive panel. By Connective Tissue Gene Tests in United States. TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...) View the complete list with 21 more genes Panel GTR000559035 complete gene list TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 25 % Genes 48 %
Cantu syndrome Deletion/ Duplication panel. By Connective Tissue Gene Tests in United States. ABCC9, KCNJ8 Specificity 50 % Genes 5 %
Cantu syndrome NGS panel. By Connective Tissue Gene Tests in United States. ABCC9, KCNJ8 Specificity 50 % Genes 5 %
Mental retardation - different panels. By Institute of Human Genetics Cologne University in Germany. EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...) View the complete list with 847 more genes Panel GTR000558415 complete gene list EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A, WAC, CNKSR1, HIST3H3, ASCC3, GPT2, TMEM135, RABL6, SLC25A16, HIKESHI, ZCCHC8, INPP4A, GEMIN4, FRMD4A, CASP2, CKAP2L, PECR, PGAP3, MEIS2, KDM6B, CCNA2, KRBOX4, ADRA2B, SCAPER, SLC39A6, GON4L, HIST1H4B, HNRNPK, APC2, GTF2E2, RSPRY1, SFXN4, RMND1, ITPA, SNX27, FASN, PPP2R1A, GABBR2, TCF20, TRIP12, DCPS, MYT1L, MED13L, TRIO, ELP2, ISCA2, JAM3, KDM1A, DDX59, DARS, USP27X, KLHL15, RLIM, KCNH1, CAD, NECTIN1, UPB1, UNC80, SC5D, FAR1, MFF, RNF113A, SMOC1, MAB21L2, HMGB3, CLP1, FTO, ERCC1, TMCO1, STT3A, STT3B, AIMP1, UBE3B, SSR4, GPHN, RBM28, PIGT, SLC12A5, HDAC4, COLEC11, IGF1, KAT6A, DDX3X, POGZ, PEX11B, COL4A2, DHFR, FAM126A, PEPD, CA5A, GTF2H5, MPLKIP, AP1S1, BUB1B, ZSWIM6, PIGG, CHAMP1, WDR73, SNX14, APOPT1, PET100, POLR3B, POLR3A, WDR81, XPA, PMPCA, COQ4, ERCC5, SCYL1, PTRH2, LAMA1, COL18A1, CACNA1G, ACY1, BCAP31, KMT2B, CLPB, SERAC1, SLC1A4, PPP1R15B, TBCE, TUBGCP6, ASXL3, TUBGCP4, PYCR2, POC1A, LARP7, PLK4, GMNN, ORC1, TCF12, MEGF8, DPH1, CA8, CC2D1A, ANK3, CTCF, GATAD2B, ADAT3, CRADD, FBXO31, FMN2, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CEP63, CEP135, CDK6, CENPE, MFSD2A, MED17, SLC25A1, LAMB1, MPDZ, CCDC88C, PTDSS1, PDE4D, SNAP29, ASNS, KIF2A, KIF5C, TUBG1, KATNB1, CDK5, FRAS1, DNMT3B, ESCO2, RTTN, TBC1D20, CEP83, ZNF423, ZBTB20, TRMT10A, HEPACAM, TBC1D7, RNF125, KPTN, CSPP1, PDE6D, CEP104, KIAA0556, SRCAP, AFF4, PRMT7, IFT172, AGPAT2, KCNJ6, OCLN, UBR1, MICU1, TCTN3, PGM3, PACS1, PIK3R1, EPG5, PRKRA, GSS, TPI1, LIG4, ERCC8, AKT3, PIK3R2, B3GLCT, RARB, STIM1, RAB27A, MYO5A, DHCR24, EIF2AK3, SLC6A3, DDC, EARS2, MAT1A, TMEM165, COG5, COG6, ALG11, COG4, MT-TV, COX10, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ERCC4, MASP1, AUTS2, KATNAL2, SATB2, SOX5, FANCD2, WNT1, GNAS, GNPAT, ASXL1, EFTUD2, RNASET2, EP300, THRB, DPP6, MT-CO3, MT-CO1, MT-ND5, MT-CO2, PGK1, CTDP1, KIF11, PRMT9, PPP2R5D, EXOSC2, FRY, RGS7, COL4A3BP, ADK, CCDC115, WDR45B, DIP2B, STAMBP, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, NT5C2, ENTPD1, PGAP1, IFIH1, MAG, HACE1, SMARCA2, ARID1A, SMARCB1, RRAS, RASA2, NSUN2, SPRED1, THOC2, CNKSR2, CCDC22, CLCN4, FRMPD4, EIF2S3, LAS1L, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, PHF8, CCBE1, NEU1, MVK, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX13, KIAA0586, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, LAMC3, MED12, MID1, ADNP, PTCHD1, FUCA1, NARS2, PEX6, PRPS1, MT-TS1, SOX10, DIAPH1, NLRP3, PNPT1, ERCC3, ERCC2, ATP6V1B2, ACTG1, ACTB, SALL1, SHANK2, SHANK3, ATP2A2, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, CACNA2D2, KMT2D, ATP13A2, KCNT1, HCN1, GRIN2B, SLC6A1, SLC35A2, SCN2A, ST3GAL5, KCTD7, GABRB3, ATP1A3, ATP1A2, ASPM, MCPH1, B3GALNT2, LARGE1, CHKB, POMGNT2, DPM2, LAMA2, GRM1, SIL1, ANO10, ISPD, POMT1, POMT2, DAG1, TRAPPC11, VRK1, DYNC1H1, CCDC78, SPART, KIF1A, WASHC5, BSCL2, SLC33A1, L1CAM, KCNJ11, FGFR1, NF1, GCH1, ATXN10, FKRP, AHI1, SCN1A, SPG11, MT-ATP6, MT-TK, ZFYVE26, MT-TL1, NTRK1, FIG4, TMEM216, DPYD, PHGDH, CLN5, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, TH, SLC35A3, PEX7, PPT1, FKTN, CLN8, CLN6, SMAD4, GPC3, PTCH1, NBN, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RMRP, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, DMPK, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, BLM, ARX, ASPA, FGFR3, PNP, MGME1, HPD, MOGS, DPAGT1, DOLK, AHCY, AGA, ABCD4, SDHA, PDHX, SLC6A8, FARS2, WWOX, PPOX, HESX1, CLN3, SMARCA4, KMT2A, SMARCE1, ARID2, ERCC6, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, FBXL4, EMC1, NKX2-1, SLC4A4, MAF, POC1B, MED25, AARS, DHTKD1, KDM6A, MAGEL2, ABCC9, GLI3, EZH2, NFIX, DNMT3A, ACVR1, SKI, TGFBR2, TGFBR1, DYM, NAGA, ATR, PCNT, CDK5RAP2, GLI2, CDON, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, EXOSC3, MTOR, NECAP1, TPP1, SOX2, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, MGAT2, LRPPRC, GALE, GALT, CBS, L2HGDH, SLC25A15, MLYCD, MAN2B1, MANBA, DBT, CYB5R3, MUT, MMAA, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, CA2, ACOX1, SLC35C1, ALDH3A2, ALDH5A1, SUOX, ABHD5, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, PUS1, D2HGDH, ALG3, STRA6, ETHE1, MPI, ALG6, GAD1, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, DNAJC19, HAX1, TUSC3, DARS2, COG8, COG1, TUBA1A, MRPS22, RFT1, COQ8A, STXBP1, SDHB, AK1, GATM, GAMT, PGM1, DPM3, NUBPL, TAT, CCDC28B, ACSF3, DNM1L, ALDH18A1, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, MECP2, SMPD1, FH, RAF1, PANK2, NDUFS4, DLD, SHH, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, NHS, HPRT1, OTX2, NDP, ELOVL4, OCRL, HSD17B10, SRD5A3, ATP6V0A2, PRODH, CC2D2A, PYCR1, MTRR, INPP5E, MTR, PAX6, PRKCG, MMACHC, ADSL, C12orf65, MFSD8, DNAJC5, CTSF, TUBB2B, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, MBD5, GRIN2A, GABRA1, CHD2, KCNQ3, KCNQ2, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATP7A, HLCS, ANKH, PC, ACAD9, MCCC2, MCCC1, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Mental Retardation and Dysmorphology - panels. By MGZ Medical Genetics Center in Germany. GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...) View the complete list with 323 more genes Panel GTR000552438 complete gene list GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, CTC1, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Syndromal Diseases - panels. By MGZ Medical Genetics Center in Germany. PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...) View the complete list with 322 more genes Panel GTR000552442 complete gene list PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
ABCC9. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. ABCC9 Specificity 100 % Genes 5 %
Cardiomyopathy panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. MYOZ1, TRIM63, CALR3, TMPO, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 41 more genes Panel GTR000509411 complete gene list MYOZ1, TRIM63, CALR3, TMPO, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYOT, FLNC, MYH7, DES, CAV3, LMNA, FKTN, GLA, DMD, TAZ, CRYAB, DSP, EYA4, TTR Specificity 4 % Genes 10 %
Cantu syndrome. By Centogene AG - the Rare Disease Company in Germany. ABCC9 Specificity 100 % Genes 5 %
Cardio-channelopathy-gene-panel. By MVZ Dortmund Dr. Eberhard & Partner in Germany. GJA5, NPPA, GJA1, DPP6, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B , (...) View the complete list with 13 more genes Panel GTR000519702 complete gene list GJA5, NPPA, GJA1, DPP6, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 40 % Genes 62 %
Arrhythmia. By Asper Biogene Asper Biogene LLC in Estonia. GJA5, NPPA, DSC2, JUP, DSG2, PLN, NKX2-5, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3 , (...) View the complete list with 18 more genes Panel GTR000558497 complete gene list GJA5, NPPA, DSC2, JUP, DSG2, PLN, NKX2-5, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, DES, CAV3, LMNA, DSP Specificity 37 % Genes 67 %
Dilated Cardiomyopathy. By Asper Biogene Asper Biogene LLC in Estonia. TBX20, TMPO, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4 , (...) View the complete list with 22 more genes Panel GTR000558508 complete gene list TBX20, TMPO, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, DMD, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 5 % Genes 10 %
J Wave Syndrome Panel. By Health in Code in Spain. KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 3 more genes Panel GTR000521462 complete gene list KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3 Specificity 22 % Genes 24 %
Brugada Syndrome Panel. By Health in Code in Spain. KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 3 more genes Panel GTR000521468 complete gene list KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3 Specificity 22 % Genes 24 %
Ventricular arrhythmia and sudden death without structural heart disease. By Health in Code in Spain. IRX3, KCNK17, KCND2, TNNI3K, CALM3, CAVIN4, KCNE5, SCN10A, FGF12, ANK3, GJA5, NPPA, FHL2, TBX5, NOS1AP, DSC2, TNNT2, RANGRF, JUP, DSG2 , (...) View the complete list with 57 more genes Panel GTR000530650 complete gene list IRX3, KCNK17, KCND2, TNNI3K, CALM3, CAVIN4, KCNE5, SCN10A, FGF12, ANK3, GJA5, NPPA, FHL2, TBX5, NOS1AP, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1, NKX2-5, ACTC1, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, SYNE2, TMEM43, SYNE1, LDB3, FLNC, MYH7, DES, CAV3, LMNA, GLA, CAVIN1, DSP, GAA, TTR, HFE Specificity 19 % Genes 67 %
Invitae Arrhythmia Comprehensive Panel. By Invitae in United States. MYL4, CALM3, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, NKX2-5, KCNA5, CASQ2, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...) View the complete list with 19 more genes Panel GTR000528497 complete gene list MYL4, CALM3, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, NKX2-5, KCNA5, CASQ2, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, ABCC9, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, KCNH2, KCNJ2, EMD, TMEM43, FLNC, DES, TTN, CAV3, LMNA, DSP Specificity 24 % Genes 43 %
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel. By Invitae in United States. MYL4, CALM3, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, NKX2-5, TGFB3, ACTC1 , (...) View the complete list with 47 more genes Panel GTR000528500 complete gene list MYL4, CALM3, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, NKX2-5, TGFB3, ACTC1, KCNA5, CASQ2, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 14 % Genes 43 %
Invitae Dilated Cardiomyopathy Panel. By Invitae in United States. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 21 more genes Panel GTR000528521 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 5 % Genes 10 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel. By Invitae in United States. STIM1, VCL, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, PLN , (...) View the complete list with 93 more genes Panel GTR000551814 complete gene list STIM1, VCL, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, FKBP14, LAMP2, CACNA1C, SCN5A, HCN4, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, TMEM43, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, MYBPC3, RYR1, SELENON, FHL1, BAG3, ATP2A1, MATR3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, FKRP, LMNA, DNM2, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, SQSTM1, DPM1, PNPLA2, DPM3, VCP, RAF1, CRYAB, DSP, TRIM32, GNE, CPT2, EYA4, GAA, AGL, TTR Specificity 2 % Genes 10 %
Invitae Brugada Syndrome Panel. By Invitae in United States. PKP2, GPD1L, CACNB2, ABCC9, CACNA1C, SCN5A, HCN4, KCNH2 Specificity 25 % Genes 10 %
Dilated Cardiomyopathy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3 , (...) View the complete list with 19 more genes Panel GTR000512326 complete gene list VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, DMD, TAZ, CRYAB, DSP, TTR Specificity 6 % Genes 10 %
Cardiomyopathy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 45 more genes Panel GTR000558613 complete gene list VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, SLC22A5, TAZ, RAF1, CRYAB, DSP, GAA, TTR Specificity 4 % Genes 10 %
Comprehensive Cardiovascular: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 86 more genes Panel GTR000558799 complete gene list TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, NEBL, PDLIM3, BMPR2, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR Specificity 10 % Genes 48 %
Dilated Cardiomyopathy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, ABCC9, LAMP2 , (...) View the complete list with 17 more genes Panel GTR000558819 complete gene list VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, DMD, TAZ, CRYAB, DSP, TTR Specificity 6 % Genes 10 %
Familial Cardiomyopathy Full Gene Sequencing Panel. By Integrated Genetics Westborough Integrated Genetics in United States. HOPX, APOA1, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...) View the complete list with 26 more genes Panel GTR000530307 complete gene list HOPX, APOA1, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1, TGFB3, MYLK2, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, LDB3, MYH7, DES, CAV3, LMNA, FKTN, GLA, ALMS1, TAZ, DNAJC19, DSP, EYA4, TTR Specificity 5 % Genes 10 %
Nuclear-Mito NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...) View the complete list with 484 more genes Panel GTR000510915 complete gene list CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1, ECSIT, GLS, NDUFA6, HSD3B1, HSPB7, HIGD2A, GLO1, GAD2, H6PD, SHMT1, FPGS, MTHFD1L, MTHFS, MDH1, TPH2, TOMM40, ACHE, ARMS2, BCAT1, BCAT2, HSPA9, TIMM44, MTHFD1, TXN2, PARP1, COQ5, NDUFA4, FASN, CDC42BPB, DISC1, MOCOS, NDUFB9, GPX4, ABCD3, DECR1, PCK1, BCL2, NOS3, GLRA1, NTHL1, PEX11B, FTH1, SLC27A4, COA5, PMPCA, COQ4, AAAS, CLCN5, MED23, PREPL, HOGA1, TPI1, AKT1, INSR, IDH1, AKT2, HADH, DDC, EARS2, SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, MARS2, NDUFS5, MRRF, TFB1M, ACACB, IMMP2L, TXNRD2, GNAS, GNPAT, PGK1, TFAM, RSPH9, KCNE2, RYR2, ANK2, ABCC9, CLCN2, UROS, PKLR, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NARS2, PEX6, KCNQ1, KCNE1, LARS2, SLC19A2, NRXN1, CACNA2D1, MFSD8, DNAJC5, SCN5A, CHRNA4, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCNH2, CHRNB2, TDP1, KCNA1, KCNJ2, RYR1, CACNA1S, SPART, SPAST, CLCNKB, PDX1, KCNJ11, LRRK2, CACNA1A, ATXN7, SCN4A, CLCN1, SCN1A, GDAP1, CLN5, ABCC8, PEX1, SACS, PEX7, PPT1, PEX2, CYBB, G6PD, CLN8, CLN6, SDHD, SLC2A1, DMPK, FOXG1, CDKL5, CFTR, CPT1B, MOGS, SUGCT, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PHB, AKAP10, PNKD, CPOX, GPD2, MEN1, WWOX, OGG1, PPOX, FECH, SLC22A4, ANKRD26, CLN3, TPP1, GLRX5, SLC25A38, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GCDH, ETFDH, ETFA, ETFB, CYBA, HK1, L2HGDH, NAGS, SLC25A15, PNMT, PAK5, PACRG, NLRX1, NDUFC2, ACLY, PARL, KYNU, TSPO, FAAH, GPAM, ENO1, COX7A2, DDAH1, MAOB, BAX, MRPL48, MTCH2, AKR7A2, AGXT2, MGST3, MGLL, NPL, CKM, NIPSNAP1, USP24, TOP1MT, TST, SIRT3, SIRT1, SLC25A39, SIRT5, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, NME1, OAT, TCIRG1, AGXT, PAH, QDPR, PTS, PGAM2, CYP27B1, ALDH7A1, PHYH, AK2, SARDH, ALDH3A2, ALDH5A1, SUOX, MMADHC, ABCD1, ACSL4, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, AGPS, PUS1, D2HGDH, RNASEL, PPARGC1B, UCP3, UCP1, ETHE1, TYMP, GAD1, SCO2, TAP1, CISD2, DMGDH, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, SPG7, COQ2, UCP2, NDUFA13, UNG, ATIC, PDP1, HADHB, GFM1, SLC25A22, TK2, SECISBP2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, HTRA2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, ACAD8, RARS2, GYS1, MRPS22, CYCS, SUCLA2, SDHB, RPL35A, COX4I2, SPR, GATM, ENO3, LDHA, SLC25A12, TMEM126A, GFER, ABAT, GPI, SPTLC2, KARS, IDH2, SCP2, CYP11A1, CYP24A1, G6PC, NUBPL, NDUFA10, TAT, XPNPEP3, MTPAP, TTC19, HSD3B2, HMGCL, NDUFAF1, PCK2, NFU1, SARS2, TMEM70, ACAT2, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, HARS, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, FOXC1, HSD17B10, PRODH, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ELN, SDHAF2, ELAC2, STAR, MMACHC, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP8B1, ATP7B, ATP5F1E, HLCS, UQCRB, UQCRQ, GYS2, PC, FBP1, YARS2, ACAT1, ACADVL, ACADS, ACADM, ACADL, ACAD9, ACACA, AARS2, MCCC2, MCCC1, TP53, MUTYH, UBE3A, HTT Specificity 2 % Genes 34 %
Arrhythmia Panel. By Blueprint Genetics in Finland. PPA2, CDH2, TECRL, MYL4, TNNI3K, CALM3, CTNNA3, SCN10A, NUP155, GATA6, DBH, TBX5, SALL4, NOS1AP, DSC2, TNNT2, JUP, DSG2, PLN, MYH6 , (...) View the complete list with 35 more genes Panel GTR000552654 complete gene list PPA2, CDH2, TECRL, MYL4, TNNI3K, CALM3, CTNNA3, SCN10A, NUP155, GATA6, DBH, TBX5, SALL4, NOS1AP, DSC2, TNNT2, JUP, DSG2, PLN, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, AKAP9, CASQ2, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, CACNB2, SCN3B, ABCC9, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, BAG3, LDB3, DES, TTN, CAV3, LMNA, HADHA, DSP Specificity 24 % Genes 62 %
Comprehensive Cardiology Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...) View the complete list with 165 more genes Panel GTR000552682 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1, CTNNA3, SCN10A, ENPP1, NUP155, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, SALL4, NOS1AP, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, NKX2-5, PRDM16, TGFB3, ACTC1, KCNA5, AKAP9, CASQ2, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, CACNB2, SCN3B, ABCC9, TRPM4, ABCC6, ACTA2, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNQ1, KCNE1, VPS13A, EEF1A2, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LARGE1, LAMA2, KCNJ2, SMCHD1, ISPD, SGCD, TCAP, POMT1, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 8 % Genes 67 %
Focus::MCL™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. SALL3, SOCS1, XPO1, TRAF2, COL16A1, DLC1, TLR2, UBR5, IKBKB, KMT2C, BIRC3, CTNNA2, CCND1, CD79B, PLCG2, KDR, NSD2, POT1, SI, PIK3CD , (...) View the complete list with 14 more genes Panel GTR000557733 complete gene list SALL3, SOCS1, XPO1, TRAF2, COL16A1, DLC1, TLR2, UBR5, IKBKB, KMT2C, BIRC3, CTNNA2, CCND1, CD79B, PLCG2, KDR, NSD2, POT1, SI, PIK3CD, MYD88, TET2, SMARCA4, ABCC9, EZH2, NOTCH1, FAT4, KMT2D, GRIN2A, BTK, CDKN2A, ATM, TP53, PTEN Specificity 3 % Genes 5 %
CANTU SYNDROME. By Bioarray in Spain. ABCC9 Specificity 100 % Genes 5 %
Dilated Cardiomyopathy Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. TMPO, FHL2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, ABCC9, LAMP2, SCN5A , (...) View the complete list with 12 more genes Panel GTR000522204 complete gene list TMPO, FHL2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, LMNA, TAZ Specificity 7 % Genes 10 %
Comprehensive Cardiomyopathy Panel. By ApolloGen, Inc. in United States. MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, VCL, MYL3, MYL2, ACTN2, RBM20, TNNT2, TPM1, MYPN, PLN, PRKAG2, MYH6, TNNI3 , (...) View the complete list with 24 more genes Panel GTR000525912 complete gene list MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, VCL, MYL3, MYL2, ACTN2, RBM20, TNNT2, TPM1, MYPN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, LAMA4, ACTC1, BMPR2, ABCC9, LAMP2, MT-TS2, MT-TS1, SCN5A, SGCD, TCAP, MYBPC3, LDB3, MYH7, DES, CAV3, PSEN2, MT-TK, MT-TL1, LMNA, GLA, TAZ, PSEN1, TTR Specificity 5 % Genes 10 %
Cardiac Arrhythmia Exome Panel. By Northwest Clinical Genomics Laboratory University of Washington in United States. GNAI2, GJA5, NPPA, DPP6, DSC2, RBM20, TNNT2, DSG2, PLN, PRKAG2, MYH6, NKX2-5, KCNA5, SCN4B, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2 , (...) View the complete list with 31 more genes Panel GTR000551465 complete gene list GNAI2, GJA5, NPPA, DPP6, DSC2, RBM20, TNNT2, DSG2, PLN, PRKAG2, MYH6, NKX2-5, KCNA5, SCN4B, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, TMEM43, LDB3, DES, TTN, CAV3, LMNA, GLA, DSP Specificity 28 % Genes 67 %
Familial Dilated Cardiomyopathy Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2 , (...) View the complete list with 15 more genes Panel GTR000556596 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, DMD, TAZ, RAF1, DSP Specificity 6 % Genes 10 %
Left Ventricular Noncompaction Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2 , (...) View the complete list with 15 more genes Panel GTR000556598 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, DMD, TAZ, RAF1, DSP Specificity 6 % Genes 10 %
ABCC9 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. ABCC9 Specificity 100 % Genes 5 %
Hypertrichotic Osteochondrodysplasia , Sequencing ABCC9 Gene. By Reference Laboratory Genetics in Spain. ABCC9 Specificity 100 % Genes 5 %
Familial Atrial Fibrillation , Panel Massive Sequencing (NGS) 13 Genes. By Reference Laboratory Genetics in Spain. GJA5, NPPA, NUP155, KCNA5, SCN4B, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, SCN5A, SCN1B, KCNJ2 Specificity 100 % Genes 62 %
Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes. By Reference Laboratory Genetics in Spain. CTNNA3, SCN10A, DSC2, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2 , (...) View the complete list with 28 more genes Panel GTR000559857 complete gene list CTNNA3, SCN10A, DSC2, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, FLNC, DES, TTN, CAV3, LMNA, DSP, ACADM Specificity 21 % Genes 48 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes. By Reference Laboratory Genetics in Spain. ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1 , (...) View the complete list with 75 more genes Panel GTR000559968 complete gene list ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, LAMA4, TGFB3, MYLK2, ACTC1, KCNA5, TP63, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, NOTCH1, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, HCN1, SCN1B, KCNH2, CACNA1H, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, PHOX2B, PTPN11, DMPK, DMD, TAZ, PHOX2A, DNAJC19, TSFM, SLC25A3, DNM1L, CRYAB, DSP, PITX2, EYA4, RET, TTR Specificity 16 % Genes 72 %
Phosphorus Pan Arrhythmia Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TGFB3, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2 , (...) View the complete list with 22 more genes Panel GTR000558335 complete gene list CALM3, SCN10A, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TGFB3, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, EMD, TMEM43, LDB3, DES, TTN, CAV3, LMNA, DSP Specificity 17 % Genes 34 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 49 more genes Panel GTR000558339 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 3 % Genes 10 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 67 more genes Panel GTR000558341 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 9 % Genes 34 %
Brugada Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B, KCNH2, KCND3 Specificity 32 % Genes 24 %
Dilated cardiomyopathy - full panel. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada. CTF1, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3 , (...) View the complete list with 5 more genes Panel GTR000560794 complete gene list CTF1, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3, MYH7, DES, TTN, LMNA, TAZ Specificity 4 % Genes 5 %
Pan-cardiomyopathy panel. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada. FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...) View the complete list with 25 more genes Panel GTR000560802 complete gene list FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SGCD, TCAP, EMD, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, LMNA, GLA, TAZ, CRYAB, DSP, TTR Specificity 3 % Genes 5 %
Dilated Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. TMPO, TXNRD2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1 , (...) View the complete list with 24 more genes Panel GTR000528545 complete gene list TMPO, TXNRD2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, ILK, PDLIM3, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, DMD, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 5 % Genes 10 %
Comprehensive Cardiomyopathy Panel (37 genes). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. VCL, MYL3, MYL2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2 , (...) View the complete list with 17 more genes Panel GTR000505113 complete gene list VCL, MYL3, MYL2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, SURF1, TAZ, SCO2, CRYAB, TTR Specificity 6 % Genes 10 %
Atrial Fibrillation Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. GJA5, NPPA, NUP155, KCNA5, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCND3, KCNJ2, LMNA Specificity 82 % Genes 62 %
Cardiac Channelopathy Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. RANGRF, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP , (...) View the complete list with 12 more genes Panel GTR000530643 complete gene list RANGRF, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 35 % Genes 53 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. CAVIN4, CHRM2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2 , (...) View the complete list with 33 more genes Panel GTR000509102 complete gene list CAVIN4, CHRM2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, ACTC1, NEBL, CASQ2, TRDN, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, PTPN11, GLA, DMD, DOLK, TAZ, RAF1, CRYAB, DSP, TTR Specificity 4 % Genes 10 %
Pan Cardiomyopathy Panel (62 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. CAVIN4, CHRM2, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 41 more genes Panel GTR000509149 complete gene list CAVIN4, CHRM2, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, TRDN, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, PTPN11, GLA, DMD, DOLK, TAZ, RAF1, CRYAB, DSP, TTR Specificity 4 % Genes 10 %
CMNext with TTN. By Ambry Genetics in United States. TBX20, TMPO, TXNRD2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...) View the complete list with 35 more genes Panel GTR000560519 complete gene list TBX20, TMPO, TXNRD2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, PTPN11, GLA, DMD, FXN, TAZ, TGFB3, RAF1, CRYAB, DSP, EYA4, TTR Specificity 6 % Genes 15 %
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CALM3, ASPH, KCNE5, SCN10A, GJA5, NPPA, DPP6, TNNT2, RANGRF, PLN, PRKAG2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2 , (...) View the complete list with 27 more genes Panel GTR000511116 complete gene list CALM3, ASPH, KCNE5, SCN10A, GJA5, NPPA, DPP6, TNNT2, RANGRF, PLN, PRKAG2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3, LMNA Specificity 28 % Genes 62 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1 , (...) View the complete list with 29 more genes Panel GTR000555626 complete gene list MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, FBN2, TGFBR2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, MYBPC3, MYH7, DES, CAV3, LMNA, FKTN, NRAS, FBN1, DSP, EYA4, TTR Specificity 21 % Genes 48 %
Dilated Cardiomyopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TMPO, FHL2, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16 , (...) View the complete list with 27 more genes Panel GTR000556120 complete gene list TMPO, FHL2, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, ACTC1, ILK, PDLIM3, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, DMD, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 7 % Genes 15 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CALR3, MIB1, CAVIN4, TMPO, FHL2, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN , (...) View the complete list with 62 more genes Panel GTR000556195 complete gene list CALR3, MIB1, CAVIN4, TMPO, FHL2, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, ILK, PDLIM3, RYR2, PKP2, ABCC9, TGFBR2, LAMP2, MYO6, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, LMNA, SGCG, FKTN, PRKAR1A, MAP2K2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, TAZ, SCO2, RAF1, CRYAB, DSP, EYA4, GAA, TTR Specificity 4 % Genes 15 %
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MYL4, TNNI3K, CALM3, KCNE5, SCN10A, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, KCNK3, SCN4B , (...) View the complete list with 35 more genes Panel GTR000528354 complete gene list MYL4, TNNI3K, CALM3, KCNE5, SCN10A, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, KCNK3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, LDB3, DES, CAV3, DSP Specificity 28 % Genes 72 %
Cardiac channelopathy NGS panel. By Connective Tissue Gene Tests in United States. TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...) View the complete list with 21 more genes Panel GTR000559048 complete gene list TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 25 % Genes 48 %
Cantu syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. ABCC9, KCNJ8 Specificity 50 % Genes 5 %
Cardiomyopathy, dilated type 1O. By Centogene AG - the Rare Disease Company in Germany. ABCC9 Specificity 100 % Genes 5 %
Atrial Fibrillation and Short QT Syndrome Panel. By CeGaT GmbH in Germany. GJA5, NPPA, KCNA5, SCN4B, KCNE2, CACNB2, SCN3B, SCN2B, ABCC9, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, SCN1B, KCNH2, KCNJ2 Specificity 77 % Genes 62 %
Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease. By Health in Code in Spain. KCNE5, CTNNA3, SCN10A, ANK3, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN , (...) View the complete list with 33 more genes Panel GTR000521477 complete gene list KCNE5, CTNNA3, SCN10A, ANK3, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, FLNC, DES, CAV3, LMNA, DSP, ACADM Specificity 19 % Genes 48 %
Brugada syndrome / J wave syndrome. By Health in Code in Spain. KCND2, KCNE5, SCN10A, FGF12, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1 , (...) View the complete list with 5 more genes Panel GTR000530663 complete gene list KCND2, KCNE5, SCN10A, FGF12, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3 Specificity 20 % Genes 24 %
Dilated Cardiomyopathy Panel. By Health in Code in Spain. FHOD3, CHRM2, COL7A1, FHL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, EMD, ACTA1 , (...) View the complete list with 19 more genes Panel GTR000530667 complete gene list FHOD3, CHRM2, COL7A1, FHL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, EMD, ACTA1, MYBPC3, BAG3, ANO5, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, DMD, DOLK, ALMS1, TAZ, DNAJC19, CRYAB, DSP, EYA4 Specificity 3 % Genes 5 %
Invitae Cardiomyopathy Comprehensive Panel. By Invitae in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2 , (...) View the complete list with 30 more genes Panel GTR000528516 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 4 % Genes 10 %
Comprehensive Cardiovascular: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...) View the complete list with 97 more genes Panel GTR000523310 complete gene list CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, SLC22A5, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR Specificity 12 % Genes 62 %
Cardiomyopathy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 42 more genes Panel GTR000558598 complete gene list VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, TAZ, RAF1, CRYAB, DSP, GAA, TTR Specificity 4 % Genes 10 %
Dilated Cardiomyopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, PKP2, ABCC9, LAMP2, SGCD , (...) View the complete list with 12 more genes Panel GTR000515880 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, PKP2, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, LMNA, TAZ, CRYAB, DSP Specificity 4 % Genes 5 %
Hypertrophic Cardiomyopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...) View the complete list with 43 more genes Panel GTR000515895 complete gene list TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, MAP2K2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, TAZ, RAF1, CRYAB, DSP, TTR Specificity 4 % Genes 10 %
ABCC9. By Fulgent Genetics Fulgent Genetics in United States. ABCC9 Specificity 100 % Genes 5 %
Cardiomyopathy Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK , (...) View the complete list with 135 more genes Panel GTR000552712 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, TGFB3, ACTC1, CASQ2, RYR2, PKP2, ABCC9, ABCC6, RRAS, RASA2, SPRED1, LAMP2, LZTR1, VPS13A, EEF1A2, SCN5A, HCN4, LARGE1, LAMA2, SMCHD1, ISPD, SGCD, TCAP, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 3 % Genes 20 %
Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel. By Blueprint Genetics in Finland. PLEKHM2, FBXO32, CTNNA3, VCL, DTNA, DSC2, RBM20, JPH2, TNNT2, TPM1, JUP, DSG2, PLN, MYH6, RYR2, PKP2, ABCC9, LAMP2, SCN5A, HCN4 , (...) View the complete list with 12 more genes Panel GTR000552650 complete gene list PLEKHM2, FBXO32, CTNNA3, VCL, DTNA, DSC2, RBM20, JPH2, TNNT2, TPM1, JUP, DSG2, PLN, MYH6, RYR2, PKP2, ABCC9, LAMP2, SCN5A, HCN4, TCAP, EMD, MYBPC3, BAG3, FLNC, MYH7, DES, TTN, LMNA, DMD, RAF1, DSP Specificity 7 % Genes 10 %
Dilated Cardiomyopathy (DCM) Panel. By Blueprint Genetics in Finland. PLEKHM2, LRRC10, FBXO32, GATAD2A, MYBPHL, HAND1, FOXD4, RMND1, MYL4, TNNI3K, TAB2, ALPK3, TBX20, RBCK1, EPG5, GATA6, APOA1, TBX5, VCL, SPEG , (...) View the complete list with 50 more genes Panel GTR000552621 complete gene list PLEKHM2, LRRC10, FBXO32, GATAD2A, MYBPHL, HAND1, FOXD4, RMND1, MYL4, TNNI3K, TAB2, ALPK3, TBX20, RBCK1, EPG5, GATA6, APOA1, TBX5, VCL, SPEG, TOR1AIP1, DSC2, ACTN2, RBM20, JPH2, TNNT2, TPM1, JUP, DSG2, PLN, MYH6, TNNI3, TNNC1, PRDM16, ACTC1, PKP2, ABCC9, ABCC6, LAMP2, VPS13A, EEF1A2, SCN5A, HCN4, TCAP, EMD, ACTA1, MYBPC3, BAG3, FLNC, MYH7, DES, TTN, DYSF, LMNA, FKTN, DMD, DOLK, ALMS1, ETFDH, ETFA, ETFB, GBE1, MLYCD, TAZ, PCCA, PCCB, RAF1, DSP, GLB1, TTR Specificity 6 % Genes 20 %
Hypertrophic Cardiomyopathy (HCM) Panel. By Blueprint Genetics in Finland. ALPK3, EPG5, APOA1, MYL3, MYL2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, PRKAG2, TNNI3, ACTC1, ABCC9, LAMP2, ACTA1, MYBPC3, FHL1, BAG3, FLNC , (...) View the complete list with 18 more genes Panel GTR000552625 complete gene list ALPK3, EPG5, APOA1, MYL3, MYL2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, PRKAG2, TNNI3, ACTC1, ABCC9, LAMP2, ACTA1, MYBPC3, FHL1, BAG3, FLNC, MYH7, CBL, SOS1, HRAS, GLA, BRAF, FXN, COX15, AGK, RAF1, NDUFAF2, SLC25A4, ELAC2, GAA, ACADVL, AGL, ACAD9, TTR Specificity 3 % Genes 5 %
Cardiomyopathy, dilated type 1O. By Bioarray in Spain. ABCC9 Specificity 100 % Genes 5 %
CardioGene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...) View the complete list with 60 more genes Panel GTR000515873 complete gene list TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, TAZ, RAF1, DSP, TTR Specificity 12 % Genes 43 %
Cardiomyopathy Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...) View the complete list with 39 more genes Panel GTR000522202 complete gene list TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, LMNA, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, TAZ, RAF1, DSP, TTR Specificity 4 % Genes 10 %
Dilated Cardiomyopathy Panel. By ApolloGen, Inc. in United States. MT-TL2, MT-TM, MT-TQ, MT-TH, MT-TI, TMPO, VCL, ACTN2, RBM20, TNNT2, TPM1, MYPN, PLN, MYH6, TNNI3, LAMA4, ACTC1, ABCC9, MT-TS2, MT-TS1 , (...) View the complete list with 13 more genes Panel GTR000525913 complete gene list MT-TL2, MT-TM, MT-TQ, MT-TH, MT-TI, TMPO, VCL, ACTN2, RBM20, TNNT2, TPM1, MYPN, PLN, MYH6, TNNI3, LAMA4, ACTC1, ABCC9, MT-TS2, MT-TS1, SCN5A, SGCD, TCAP, MYBPC3, LDB3, MYH7, DES, PSEN2, MT-TK, MT-TL1, LMNA, TAZ, PSEN1 Specificity 7 % Genes 10 %
Cardiomyopathy Exome Panel. By Northwest Clinical Genomics Laboratory University of Washington in United States. CAVIN4, CHRM2, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 55 more genes Panel GTR000551457 complete gene list CAVIN4, CHRM2, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, TRDN, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, TAZ, RAF1, CRYAB, DSP, PSEN1, GAA, TTR Specificity 3 % Genes 10 %
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. CALR3, MIB1, TBX20, GATA6, TBX5, VCL, DTNA, MYL3, MYL2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN , (...) View the complete list with 33 more genes Panel GTR000558288 complete gene list CALR3, MIB1, TBX20, GATA6, TBX5, VCL, DTNA, MYL3, MYL2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, LAMA4, MYLK2, ACTC1, ABCC9, LAMP2, SCN5A, HCN4, SGCD, TCAP, MYBPC3, BAG3, LDB3, FLNC, MYH7, DES, TTN, PSEN2, LMNA, FKTN, DMD, TAZ, MRPL3, RAF1, CRYAB, DSP, EYA4, PSEN1 Specificity 6 % Genes 15 %
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 28 more genes Panel GTR000558334 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, DMD, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, RAF1, CRYAB, DSP, CPT2, EYA4, ACADVL, TTR Specificity 5 % Genes 10 %
Phosphorus Pan Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 32 more genes Panel GTR000558336 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, LAMP2, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 4 % Genes 10 %
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 40 more genes Panel GTR000558337 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, LAMP2, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 4 % Genes 10 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 50 more genes Panel GTR000558340 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 10 % Genes 34 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 75 more genes Panel GTR000558342 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 8 % Genes 34 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 57 more genes Panel GTR000558343 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 3 % Genes 10 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 58 more genes Panel GTR000558344 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 9 % Genes 34 %
Phosphorus Brugada Syndrome Panel. By Phosphorus Diagnostics LLC in United States. SCN10A, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, CACNA1C, SCN5A, HCN4, KCNH2 Specificity 20 % Genes 10 %
Phosphorus Dilated Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 22 more genes Panel GTR000558272 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 5 % Genes 10 %
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories in United States. GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...) View the complete list with 617 more genes Panel GTR000508280 complete gene list GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2, PRPF8, AGPS, PRPF31, PUS1, D2HGDH, CA4, PITPNM3, ALG3, STRA6, MYO7A, RNASEL, PPARGC1B, UCP3, UCP1, GJA3, PHOX2A, SQSTM1, GUCA1A, ETHE1, MPI, EYS, TYMP, ALG6, GAD1, SLC35A1, RIMS1, SCO2, LCA5, TAP1, CISD2, C1QTNF5, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, NDUFA13, GRN, ALG2, FSCN2, ALG8, UNG, AP3B1, MEF2A, CERKL, RGS9, ALG1, ATIC, ALG9, COG7, PDP1, DPM1, HADHB, FLVCR1, GFM1, MPDU1, PLOD2, IQCB1, SLC25A22, TK2, SECISBP2, TOPORS, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, SEMA4A, HTRA2, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, MRPS16, TSFM, PRCD, RD3, TUFM, CRTAP, PNPLA2, HAX1, SLC25A3, P3H1, TUSC3, DARS2, COG8, COG1, ACAD8, RARS2, GYS1, TUBA1A, MRPS22, CYCS, RFT1, COQ8A, SUCLA2, STXBP1, SLC9A3R1, SLC39A13, SDHB, PLOD3, RPL35A, AK1, SOD2, RDH12, COX4I2, SPR, GATM, GAMT, ADAM9, ENO3, LDHA, PGM1, DPM3, KLHL7, SLC25A12, TMEM126A, TLR3, PHKG2, GFER, PDE6C, ABAT, TRPM1, TSPAN12, CAVIN1, LRAT, GRK1, PCARE, GCKR, GPI, IMPG2, CNGA1, CYP24A1, G6PC, PYGL, NUBPL, NDUFA10, TAT, FAM161A, FYCO1, XPNPEP3, MTPAP, MSRB3, GNAT2, TTC19, HSD3B2, CCDC28B, HMGCL, NDUFAF1, PCK2, FAH, PHKA2, RS1, NFU1, CNGB1, RGR, CCDC39, PDE6A, GUCA1B, SLC24A1, SARS2, SP7, DHDDS, MERTK, SERPINF1, PRPF6, HAGH, TMEM70, ACAT2, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HP, CAT, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, GOT1, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, C8orf37, HARS, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, PPP2R1B, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, CNGA3, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, HK1, CBS, L2HGDH, NAGS, SLC25A15, TNFRSF11B, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, NME1, MPV17, GRM6, OAT, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CYP27B1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, AK2, LPIN1, HEXB, SARDH, ALDH3A2, ALDH5A1, SUOX, GM2A, HEXA, TCN2, ABHD5, LMBRD1, MMADHC, XDH, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, DDOST, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, CDH23, MTO1, WHRN, SLC26A4, FBN1, CYP11B2, MECP2, SMPD1, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, VCP, FH, OPA3, RAF1, HADHA, PANK2, SDHC, CRYAB, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, DSP, PRPH2, ME2, SHH, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, HPRT1, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ABCA12, INPP5E, TNFRSF11A, GPR143, OPTN, RP1, EYA4, PDZD7, SLC37A4, ELN, TYR, MC1R, RET, MTR, HNF1B, LEMD3, SDHAF2, TUBB3, PITX3, TGFBI, RILP, PSEN1, RB1, CHM, TLR4, ELAC2, ZEB1, TGFB1, PAX6, WT1, SLC45A2, AMN, SOST, APP, SLC34A1, VSX1, OCA2, PRKCG, STAT1, STAR, KRT3, KRT12, GPD2, EFEMP1, SNCB, COL5A2, COL5A1, MEN1, WWOX, FZD4, KIF21A, RDH5, TIMP3, MYOC, OGG1, STAT3, RPS14, LMX1B, SEPT9, TMEM127, PPOX, ZFHX3, FECH, RP9, SLC22A4, HESX1, ANKRD26, NCOA4, CYP17A1, OGDH, ALMS1, CLN3, TPP1, GLRX5, SLC25A38, SOX2, ASL, APTX, BBS2, PDE6G, RP1L1, SPTLC2, KARS, IDH2, CDHR1, SCP2, CYP11A1, NRL, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, PPARG, EYA1, FBLN5, TYRP1, RAX, MMACHC, SPATA7, NEUROD1, OPN1LW, HBB, HNF1A, OPN1MW, INVS, FOXL2, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATPAF2, ATP8B1, ATP7B, BTD, ATP7A, FKBP10, ATP5F1E, TYROBP, HLCS, UQCRB, ANKH, ARG1, UQCRQ, USH1C, GYS2, PC, FBP1, USH1G, ALDOB, ALDOA, YARS2, AIPL1, ZNF513, ACAT1, ACADVL, AGL, ACADS, ACADM, ACAD9, ACACA, ABHD12, ABCB4, ABCB11, AARS2, MCCC2, MCCC1, TP53, MUTYH, VHL, UBE3A, MTHFR, BRCA1 Specificity 1 % Genes 5 %
Optic Atrophy and Early Glaucoma Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SH3PXD2B, SLC4A4, LTBP2, ASB10, FOXE3, MAF, TBK1, ACVR1, CANT1, NR2F1, COL4A1, SBF2, MYOC, LMX1B, NDUFS1, CISD2, SPG7, TMEM126A, MTPAP, ACO2 , (...) View the complete list with 14 more genes Panel GTR000558970 complete gene list SH3PXD2B, SLC4A4, LTBP2, ASB10, FOXE3, MAF, TBK1, ACVR1, CANT1, NR2F1, COL4A1, SBF2, MYOC, LMX1B, NDUFS1, CISD2, SPG7, TMEM126A, MTPAP, ACO2, OPA3, POLG, CYP1B1, MFRP, PITX2, FOXC1, WFS1, OPA1, OPTN, PITX3, PAX6, C12orf65, BEST1, AUH Specificity 3 % Genes 5 %
Hearing Loss Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. MASP1, MYO1A, DTD1, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, SEMA3E, POU4F3 , (...) View the complete list with 102 more genes Panel GTR000528548 complete gene list MASP1, MYO1A, DTD1, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, ESPN, KCNQ4, EDNRB, PAX3, DNMT1, DIAPH1, NLRP3, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, GRHL2, MYO15A, MYO6, MYO3A, HGF, EDN3, GIPC3, DLX5, COL9A1, CCDC50, CLDN14, COCH, CACNA1D, CIB2, ATP6V1B1, ACTG1, SALL1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, CDKN1C, POU3F4, GJB6, GJB2, CHD7, FGFR3, ARSB, ABHD5, TIMM8A, MYO7A, CISD2, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, PITX2, FOXC1, WFS1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BTD, ANKH, USH1C, USH1G, ABHD12 Specificity 3 % Genes 15 %
Axenfeld-Rieger syndrome. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark. B3GLCT, FOXE3, CYP1B1, PITX2, FOXC1, PITX3, PAX6 Specificity 15 % Genes 5 %
Anterior segment defects. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark. KERA, B3GLCT, FOXE3, COL4A1, LAMB2, PORCN, PAX2, CYP1B1, PITX2, FOXC1, PITX3, PAX6, EYA1 Specificity 8 % Genes 5 %
Axenfeld-Rieger syndrome. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark. PITX2, FOXC1 Specificity 50 % Genes 5 %
PITX2 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. PITX2 Specificity 100 % Genes 5 %
PITX2. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PITX2 Specificity 100 % Genes 5 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes). By CGC Genetics in Portugal. HMX1, MIR184, SLC38A8, PXDN, ASPH, B3GLCT, BMP4, FOXE3, COL4A1, PTCH1, FGFR2, CYP1B1, JAG1, PITX2, FOXC1, PITX3, PAX6, VSX1 Specificity 6 % Genes 5 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes). By CGC Genetics in Portugal. HMX1, MIR184, SLC38A8, PXDN, ASPH, B3GLCT, BMP4, FOXE3, COL4A1, PTCH1, FGFR2, CYP1B1, JAG1, PITX2, FOXC1, PITX3, PAX6, VSX1 Specificity 6 % Genes 5 %
Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ASPH, B3GLCT, SH3PXD2B, FOXE3, COL4A1, CYP1B1, PITX2, FOXC1, PAX6 Specificity 12 % Genes 5 %
Glaucoma Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. COL8A1, OPTC, ATOH7, COL8A2, WDR36, SH3PXD2B, SLC4A4, LTBP2, COL4A1, MYOC, LMX1B, CYP1B1, MFRP, PITX2, FOXC1, OPTN, PAX6 Specificity 6 % Genes 5 %
Cataract. By MGZ Medical Genetics Center in Germany. TMEM114, JAM3, MIR184, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, CRYAA , (...) View the complete list with 45 more genes Panel GTR000521132 complete gene list TMEM114, JAM3, MIR184, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, COL4A2, FAM126A, ERCC5, COL18A1, TBC1D20, EPG5, CRYBA4, VSX2, RAB18, FTL, CTDP1, RAB3GAP2, ERCC6, LTBP2, FOXE3, MAF, MYH9, COL11A1, ERCC2, RAB3GAP1, COL4A1, SIL1, SLC33A1, GLA, SIX6, CYP27A1, GALK1, GJA3, FYCO1, OPA3, CRYAB, NHS, PITX2, FOXC1, WFS1, ABCB6, PAX6, COL2A1, EYA1 Specificity 2 % Genes 5 %
PITX2 related Axenfeld-Rieger syndrome, type 1 ; Peters anomaly. By MGZ Medical Genetics Center in Germany. PITX2 Specificity 100 % Genes 5 %
Eye Diseases - panels. By MGZ Medical Genetics Center in Germany. OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1 , (...) View the complete list with 147 more genes Panel GTR000552433 complete gene list OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, ATOH7, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, ASPH, COL4A2, ADAMTS10, FAM126A, ADAMTSL4, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ERCC5, COL18A1, C12orf57, LRP2, FRAS1, FREM2, GRIP1, TBC1D20, EPG5, COL17A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RARB, RAB18, FTL, GJA1, CTDP1, RAB3GAP2, ERCC6, LTBP2, FOXE3, MAF, CHST6, LRMDA, SLC24A5, GDF6, ZNF469, PRDM5, ZIC2, TGIF1, TFAP2A, MYH9, SLC4A11, COL11A2, COL11A1, COL9A2, ERCC2, COL9A3, COL9A1, ACTG1, ACTB, VPS13B, TREX1, TUBB2B, SIX3, RAB3GAP1, COL4A1, SIL1, SLC33A1, ADAMTS2, GLA, CHD7, GSN, PAX2, KRT3, COL5A2, COL5A1, FZD4, KIF21A, MYOC, HESX1, SOX2, CYP4V2, SIX6, CYP27A1, GALK1, CBS, BCOR, HCCS, FRMD7, STRA6, GJA3, PHOX2A, TMEM126A, FYCO1, MTPAP, FBN1, OPA3, CRYAB, MFN2, SHH, NHS, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, OCRL, WFS1, ABCB6, OPA1, GPR143, TYR, TUBB3, TGFBI, ZEB1, PAX6, SLC45A2, VSX1, OCA2, COL3A1, COL2A1, LRP5, EYA1, TYRP1, RAX, FOXL2, C12orf65 Specificity 1 % Genes 5 %
Single gene testing PITX2. By CeGaT GmbH in Germany. PITX2 Specificity 100 % Genes 5 %
Eye diseases comprehensive panel. By Asper Biogene Asper Biogene LLC in Estonia. ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...) View the complete list with 255 more genes Panel GTR000553865 complete gene list ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ITM2B, LAMA1, FRAS1, FREM2, GRIP1, B3GLCT, PRSS56, GDF3, BMP4, CRYBA4, VSX2, FREM1, VAX1, ARL13B, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, FTL, GJA1, CFH, CTDP1, KIF11, C19orf12, SDCCAG8, WDPCP, LZTFL1, WDR19, RBP4, CHST6, CDH3, IFT140, GDF6, GPR179, CNNM4, PDE6H, RAX2, RAB28, UNC119, GNPTG, ZNF469, ABCC6, PRDM5, NAA10, MVK, SLC4A11, COL11A2, COL11A1, COL9A2, GIPC3, COL9A1, CIB2, VPS13B, TREX1, OFD1, MFSD8, COL4A1, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, GSN, TEAD1, PAX2, KRT3, KRT12, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, SIX6, CNGA3, GALK1, GALT, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GJA3, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, GFER, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, FYCO1, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, AGK, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, CRYAB, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, CC2D2A, WFS1, ABCB6, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, TGFBI, CHM, ZEB1, PAX6, SLC45A2, VSX1, COL2A1, LRP5, TYRP1, SPATA7, OPN1MW, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 5 %
Axenfeld-Rieger syndrome. By Praxis fuer Humangenetik Wien in Austria. PITX2 Specificity 100 % Genes 5 %
Iridogoniodysgenesis, type 2. By Praxis fuer Humangenetik Wien in Austria. PITX2 Specificity 100 % Genes 5 %
qGenEx Craniofacial Anomalies. By Quantitative Genomic Medicine Laboratories, SL in Spain. UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...) View the complete list with 116 more genes Panel GTR000552865 complete gene list UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9, MSX1, FAM83H, GRHL3, DLX3, PLCB4, EDN1, MEOX1, AMELX, EDARADD, ADAMTSL4, WNT10A, EDAR, SF3B4, FOXE1, ALX3, TCF12, ERF, MEGF8, CDC45, LRP2, SPECC1L, IRF6, EDA, CDSN, NFKBIA, AXIN2, GDF3, BMP4, ALX1, VAX1, IFT122, IL11RA, DISP1, IFT43, MASP1, SATB2, GJA1, SH3BP2, GNAI3, EFTUD2, EFNB1, SALL4, ALX4, FGF10, WDR19, GDF6, KDM6A, TP63, MITF, GLI3, EZH2, SKI, TGFBR2, TGFBR1, GLI2, CDON, ZIC2, TGIF1, TWIST1, MSX2, RAB23, NAA10, PTH1R, WDR35, KAT6B, MED12, MID1, POLR1D, TFAP2A, SEMA3E, FGF3, SIX1, TCOF1, SOX10, SNAI2, PAX3, POLR1C, DSPP, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, ZEB2, FGD1, OFD1, ANKRD11, KMT2D, SIX3, FGF8, FGFR1, PTCH1, NSD1, NIPBL, SMC1A, SMC3, RAD21, FGFR2, RUNX2, PORCN, IKBKG, GJB6, CHD7, FGFR3, CTSK, BCOR, DHODH, SHH, OTX2, PITX2, FOXC1, PAX6, COL2A1, EYA1, RECQL4 Specificity 1 % Genes 5 %
Axenfeld-Rieger syndrome. By MedGene in Slovakia. PITX2 Specificity 100 % Genes 5 %
Peters anomaly. By MedGene in Slovakia. PITX2 Specificity 100 % Genes 5 %
Invitae Congenital Cataracts Panel. By Invitae in United States. CRYGS, HSF4, BFSP1, EPHA2, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CRYGD, CRYAA, CRYBB3, CRYBB1, GCNT2, GJA8, FAM126A, VSX2, CTDP1, MAF, SIL1 , (...) View the complete list with 12 more genes Panel GTR000551712 complete gene list CRYGS, HSF4, BFSP1, EPHA2, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CRYGD, CRYAA, CRYBB3, CRYBB1, GCNT2, GJA8, FAM126A, VSX2, CTDP1, MAF, SIL1, GALK1, BCOR, GJA3, FYCO1, AGK, CRYAB, NHS, PITX2, FOXC1, OCRL, PITX3, PAX6 Specificity 4 % Genes 5 %
Invitae Axenfeld-Rieger Panel. By Invitae in United States. PITX2, FOXC1 Specificity 50 % Genes 5 %
Axenfeld-Rieger syndrome, type 1: PITX2 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PITX2 Specificity 100 % Genes 5 %
Eye Disorders: Comprehensive Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...) View the complete list with 190 more genes Panel GTR000512373 complete gene list SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, LRMDA, SLC24A5, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, ATP13A2, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CYP27A1, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 5 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SHOX2, IGF1R, IGF1, TBCE, WRN, CUL7, ROR2, SRCAP, SMARCAL1, STAT5B, INSR, TRIM37, EP300, THRB, LHX3, ERCC6, KDM6A, GLI2, SOX3, RPS6KA3 , (...) View the complete list with 25 more genes Panel GTR000512423 complete gene list SHOX2, IGF1R, IGF1, TBCE, WRN, CUL7, ROR2, SRCAP, SMARCAL1, STAT5B, INSR, TRIM37, EP300, THRB, LHX3, ERCC6, KDM6A, GLI2, SOX3, RPS6KA3, FGD1, ATRX, KMT2D, GHR, GH1, POU1F1, SHOX, GHRHR, BTK, PROP1, NBN, NIPBL, SMC1A, ERCC8, SMC3, SOS1, PTPN11, KRAS, DHCR7, CREBBP, BLM, HESX1, SOX2, RAF1, PITX2 Specificity 3 % Genes 5 %
Hearing Loss: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MASP1, MYO1A, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, GRXCR2, SYNE4, ELMOD3, TMEM132E, OTOGL, CEACAM16, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP , (...) View the complete list with 111 more genes Panel GTR000512601 complete gene list MASP1, MYO1A, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, GRXCR2, SYNE4, ELMOD3, TMEM132E, OTOGL, CEACAM16, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SLITRK6, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, RIPOR2, TMPRSS3, TECTA, TCOF1, SOX10, SERPINB6, SLC17A8, SIX5, P2RX2, KCNQ4, EDNRB, PAX3, DCDC2, DNMT1, DIAPH1, OTOG, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL4A6, HOMER2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CIB2, ATP6V1B1, ADCY1, ACTG1, SALL1, KCNJ10, TBC1D24, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, CHD7, FGFR3, ARSB, HARS2, ALMS1, ABHD5, AIFM1, TIMM8A, MYO7A, CISD2, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, PITX2, FOXC1, WFS1, OPA1, HSD17B4, EYA4, COL2A1, EYA1, BTD, USH1C, USH1G, ABHD12 Specificity 3 % Genes 15 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...) View the complete list with 3 more genes Panel GTR000558531 complete gene list SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, PITX3, PAX6 Specificity 5 % Genes 5 %
Eye Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...) View the complete list with 187 more genes Panel GTR000559618 complete gene list SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 5 %
Hearing Loss: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MASP1, MYO1A, SLC29A3, SALL4, GPSM2, RPS6KA3, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3 , (...) View the complete list with 71 more genes Panel GTR000560677 complete gene list MASP1, MYO1A, SLC29A3, SALL4, GPSM2, RPS6KA3, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, SERPINB6, SLC17A8, KCNQ4, DNMT1, DIAPH1, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, GRHL2, MYO15A, MYO6, MYO3A, HGF, GIPC3, CCDC50, CLDN14, COCH, CIB2, ATP6V1B1, ACTG1, SALL1, KCNJ10, COL4A5, BSND, POU3F4, GJB6, GJB2, CHD7, FGFR3, ARSB, HARS2, ABHD5, TIMM8A, MYO7A, CISD2, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, PITX2, FOXC1, WFS1, HSD17B4, EYA4, EYA1, BTD, USH1C, USH1G, ABHD12 Specificity 4 % Genes 15 %
Eye Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...) View the complete list with 118 more genes Panel GTR000506412 complete gene list RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1, RBP3, PRPF3, NR2E3, PAX2, EFEMP1, TIMP3, MYOC, RP9, CLN3, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, CYP4V2, GRM6, OAT, PHYH, BCOR, TIMM8A, RP2, PRPF8, PRPF31, CA4, PITPNM3, GUCA1A, EYS, RIMS1, LCA5, FSCN2, CERKL, RGS9, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, LRAT, PCARE, IMPG2, PDE6G, RP1L1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, MERTK, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, PRPH2, PCDH15, NPHP4, TRIM32, CEP290, MKKS, NPHP1, NPHP3, KCNJ13, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, OPTN, RP1, RB1, CHM, PAX6, COL2A1, SPATA7, INVS, BEST1, USH1C, AIPL1, ZNF513 Specificity 1 % Genes 5 %
Glaucoma Panel. By Blueprint Genetics in Finland. WDR36, TEK, LTBP2, FOXE3, MAF, TBK1, CNTNAP2, COL4A1, MYOC, LMX1B, TMEM126A, OPA3, CYP1B1, PITX2, FOXC1, OPA1, OPTN, PAX6 Specificity 6 % Genes 5 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...) View the complete list with 288 more genes Panel GTR000561533 complete gene list IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9, WDR34, FAM83H, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, MAFB, INPPL1, SNX10, MMP13, DLX3, EOGT, DDR2, IGF1R, TBX3, MATN3, IGF1, TRAPPC2, GDF5, PTHLH, RBPJ, DOCK6, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, FAM20A, GALNT3, ARHGAP31, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, CLCN5, ENPP1, FAM111A, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, CDC45, CEP63, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, CCNQ, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, RTTN, WNT5A, CSPP1, SRCAP, IFT172, TCTN3, PGM3, NOTCH2, SMARCAL1, MGP, STAT5B, EXT1, EXT2, AKT1, INSR, VIPAS39, DHCR24, EIF2AK3, IFT122, B3GALT6, MYCN, RBBP8, PIK3CA, EVC2, EVC, IFT80, IFT43, KIF7, TTC21B, SLC29A3, BGN, B3GAT3, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, GJA1, GNAS, TRIM37, GNPAT, SH3BP2, EFTUD2, EFNB1, EP300, ALX4, LHX3, LHX4, TBX19, STAMBP, KMT2A, WDR19, TGFB3, BMPR1B, SH3PXD2B, LTBP2, IFT140, TP63, GLI3, EZH2, NFIX, ACVR1, CHST14, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, DYM, ADAMTSL2, ATR, PCNT, GLI2, CEP152, RRAS, RASA2, SOX9, COMP, TWIST1, MSX2, POR, NSDHL, SOX3, EBP, FANCB, MBTPS2, PTH1R, CANT1, WDR35, KAT6B, PEX19, PEX14, LZTR1, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, ACTG1, ACTB, LBR, SETBP1, FGD1, ANKRD11, FLNA, CENPJ, HSPG2, ANO5, FGF23, PHEX, GHR, GH1, POU1F1, CASR, SHOX, FGFR1, GHRHR, NF1, LMNA, TRPV4, SLC26A2, PEX7, PROP1, PRKAR1A, ACP5, SBDS, SMAD4, CDKN1C, NSD1, NIPBL, SMC1A, SMC3, CBL, RAD21, MAP2K2, RIT1, HDAC8, FGFR2, VDR, SOS1, SHOC2, RUNX2, RMRP, PTPN11, NRAS, MAP2K1, KRAS, IDS, HRAS, DHCR7, CREBBP, COL10A1, BRAF, FANCC, FGFR3, ARSB, COL5A2, COL5A1, LMX1B, HESX1, SOX2, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AIFM1, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SP7, SERPINF1, FBN1, RAF1, OTX2, PITX2, ATP6V0A2, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, BCS1L, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 5 %
Axenfeld-Rieger syndrome type 1. By Bioarray in Spain. PITX2 Specificity 100 % Genes 5 %
Axenfeld-Rieger syndrome type 1. By Bioarray in Spain. PITX2 Specificity 100 % Genes 5 %
Peters anomaly. By Bioarray in Spain. PITX2 Specificity 100 % Genes 5 %
Axenfeld-Rieger syndrome. By Bioarray in Spain. PITX2 Specificity 100 % Genes 5 %
Rapid microarray (CGH and SNP). By Allele Diagnostics Allele Diagnostics in United States. CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...) View the complete list with 153 more genes Panel GTR000525320 complete gene list CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK, EXT2, VLDLR, MYCN, ZIC3, F8, F9, EFNB1, TBX5, SALL4, ALX4, LHX4, KCNQ1OT1, NR5A1, SH2D1A, NKX2-5, DOCK8, ACVRL1, MITF, GLI3, ZIC2, TGIF1, SOX9, TWIST1, MSX2, IL1RAPL1, NSDHL, SOX3, FTSJ1, PHF8, EHMT1, FOXP1, FOXP2, MID1, OTOA, GATA3, FGF3, SOX10, EDNRB, PAX3, COL4A6, SALL1, SHANK2, TBX1, VPS13B, ZEB2, CASK, OPHN1, GRIA3, FGD1, CNTNAP2, TCF4, NRXN1, MAGI2, PDCD10, CCM2, KRIT1, ADGRG1, PAFAH1B1, SIX3, DCX, MBD5, KCNQ2, SCN2A, LARGE1, EMD, MTM1, PKD1, COL4A5, GHR, ANOS1, SHOX, NR0B1, SGCE, NF1, GCH1, SCN1A, PMP22, BTK, ABCC8, CYBB, CTNS, ENG, SMAD4, BMPR1A, GPC3, SDHD, STK11, NF2, PTCH1, NSD1, NIPBL, TSC1, SYNGAP1, TSC2, SRY, SLC2A1, RUNX2, RPS19, RAI1, PORCN, PLP1, PCDH19, MEF2C, GJB6, FOXG1, DMD, CREBBP, CHD7, CDKL5, ARSA, AR, LMX1B, SOX2, APTX, SLC3A1, BCOR, AMER1, TIMM8A, GK, HCCS, OTC, TUSC3, STXBP1, SDHB, FBN1, MECP2, SHH, ADGRV1, NPHP1, HPRT1, NDP, JAG1, PITX2, OCRL, ELN, RET, HNF1B, RB1, CHM, PAX6, WT1, OCA2, EYA1, HBB, FOXL2, ATP7A, USH1C, TP53, PTEN, APC, VHL, UBE3A, FMR1 Specificity 2 % Genes 10 %
High-Resolution Rapid Microarray (CGH and SNP). By Allele Diagnostics Allele Diagnostics in United States. CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...) View the complete list with 153 more genes Panel GTR000560671 complete gene list CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK, EXT2, VLDLR, MYCN, ZIC3, F8, F9, EFNB1, TBX5, SALL4, ALX4, LHX4, KCNQ1OT1, NR5A1, SH2D1A, NKX2-5, DOCK8, ACVRL1, MITF, GLI3, ZIC2, TGIF1, SOX9, TWIST1, MSX2, IL1RAPL1, NSDHL, SOX3, FTSJ1, PHF8, EHMT1, FOXP1, FOXP2, MID1, OTOA, GATA3, FGF3, SOX10, EDNRB, PAX3, COL4A6, SALL1, SHANK2, TBX1, VPS13B, ZEB2, CASK, OPHN1, GRIA3, FGD1, NRXN1, MAGI2, PDCD10, CCM2, KRIT1, ADGRG1, PAFAH1B1, SIX3, DCX, MBD5, KCNQ2, SCN2A, LARGE1, EMD, MTM1, PKD1, COL4A5, GHR, ANOS1, SHOX, NR0B1, SGCE, NF1, GCH1, SCN1A, PMP22, BTK, ABCC8, CYBB, CTNS, ENG, SMAD4, BMPR1A, GPC3, SDHD, STK11, NF2, PTCH1, NSD1, NIPBL, TSC1, SYNGAP1, TSC2, SRY, SLC2A1, RUNX2, RPS19, RAI1, PORCN, PLP1, PCDH19, MEF2C, GJB6, FOXG1, DMD, CREBBP, CHD7, CDKL5, ARSA, AR, LMX1B, SOX2, APTX, SLC3A1, BCOR, AMER1, TIMM8A, GK, HCCS, OTC, TUSC3, STXBP1, SDHB, FBN1, MECP2, SHH, ADGRV1, NPHP1, CNTNAP2, TCF4, HPRT1, NDP, JAG1, PITX2, OCRL, ELN, RET, HNF1B, RB1, CHM, PAX6, WT1, OCA2, EYA1, HBB, FOXL2, ATP7A, USH1C, TP53, PTEN, APC, VHL, UBE3A, FMR1 Specificity 2 % Genes 10 %
AXENFELD-RIEGER SYNDROME (RIEGER DISEASE). By Laboratorio de Genetica Clinica SL in Spain. PITX2, FOXC1 Specificity 50 % Genes 5 %
Hypospadias Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2 , (...) View the complete list with 41 more genes Panel GTR000531740 complete gene list PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2, EVC, EFNB1, SRD5A2, FGF10, NR5A1, FBXL4, TP63, GLI3, PCNT, WDR35, FAT4, MED12, MID1, SALL1, ZEB2, SETBP1, ATRX, FLNA, FGFR1, FIG4, PEX1, HBA1, GPC3, CDKN1C, FGFR2, PTPN11, DHCR7, CREBBP, ARX, AR, FGFR3, SOX2, BCOR, HCCS, CYP11A1, HSD3B2, TMEM70, MKKS, PITX2, HNF1B, WT1 Specificity 2 % Genes 5 %
PITX2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PITX2 Specificity 100 % Genes 5 %
PITX2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PITX2 Specificity 100 % Genes 5 %
PITX2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PITX2 Specificity 100 % Genes 5 %
Axenfeld-Rieger syndrome (deletion/duplication analysis of PITX2 and FOXC1 genes). By CGC Genetics in Portugal. PITX2, FOXC1 Specificity 50 % Genes 5 %
Axenfeld-Rieger syndrome (sequence analysis of PITX2 gene). By CGC Genetics in Portugal. PITX2 Specificity 100 % Genes 5 %
Peters anomaly (sequence analysis of PITX2 gene). By CGC Genetics in Portugal. PITX2 Specificity 100 % Genes 5 %
PITX2- Related Disorders via PITX2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PITX2 Specificity 100 % Genes 5 %
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome. By MGZ Medical Genetics Center in Germany. MIR184, SLC38A8, ASPH, COL4A2, B3GLCT, LTBP2, FOXE3, COL4A1, MYOC, CYP1B1, PITX2, FOXC1, PAX6, EYA1 Specificity 8 % Genes 5 %
Axenfeld-Rieger syndrome type 3. By Centogene AG - the Rare Disease Company in Germany. PITX2 Specificity 100 % Genes 5 %
Rieger syndrome. By Centogene AG - the Rare Disease Company in Germany. PITX2 Specificity 100 % Genes 5 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis. By Asper Biogene Asper Biogene LLC in Estonia. SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1 , (...) View the complete list with 15 more genes Panel GTR000553195 complete gene list SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1, SOX2, SIX6, BCOR, HCCS, STRA6, CYP1B1, OTX2, MFRP, PITX2, FOXC1, ABCB6, PAX6, VSX1, EYA1, RAX Specificity 3 % Genes 5 %
Glaucoma. By Asper Biogene Asper Biogene LLC in Estonia. LOXL1, NTF4, LTBP3, COL18A1, WDR36, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, SBF2, MYOC, LMX1B, CYP1B1, PITX2, FOXC1, OPTN, PITX3, PAX6, BEST1 Specificity 5 % Genes 5 %
Developmental Eye Disease panel. By Molecular Vision Laboratory in United States. DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1 , (...) View the complete list with 39 more genes Panel GTR000521504 complete gene list DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, RAB18, RAB3GAP2, FOXE3, GDF6, NAA10, SOX3, FOXC2, ZEB2, CASK, SIX3, RAB3GAP1, COL4A1, LARGE1, ISPD, POMT1, POMT2, LAMB2, FKRP, FKTN, CHD7, PAX2, HESX1, SOX2, SIX6, BCOR, STRA6, CRX, SHH, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, ABCB6, PITX3, PAX6, RAX Specificity 2 % Genes 5 %
Peters anomaly. By Praxis fuer Humangenetik Wien in Austria. PITX2 Specificity 100 % Genes 5 %
Iridogoniodysgenesis, type 2. By MedGene in Slovakia. PITX2 Specificity 100 % Genes 5 %
Invitae Early-Onset Glaucoma Panel. By Invitae in United States. CYP1B1, PITX2, FOXC1 Specificity 34 % Genes 5 %
Peters Anomaly: PITX2 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PITX2 Specificity 100 % Genes 5 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...) View the complete list with 3 more genes Panel GTR000512371 complete gene list SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, PITX3, PAX6 Specificity 5 % Genes 5 %
PITX2. By Fulgent Genetics Fulgent Genetics in United States. PITX2 Specificity 100 % Genes 5 %
Comprehensive Short Stature Syndrome Panel. By Blueprint Genetics in Finland. IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN , (...) View the complete list with 55 more genes Panel GTR000552721 complete gene list IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN, SRCAP, NOTCH2, STAT5B, INSR, RBBP8, B3GAT3, GNAS, TRIM37, EP300, LHX3, LHX4, TBX19, ATR, PCNT, GLI2, CEP152, RRAS, RASA2, SOX3, LZTR1, ACTG1, ACTB, FGD1, CENPJ, GHR, GH1, POU1F1, SHOX, GHRHR, PROP1, NIPBL, SMC1A, SMC3, CBL, RAD21, MAP2K2, RIT1, HDAC8, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, DHCR7, CREBBP, BRAF, FGFR3, HESX1, SOX2, RAF1, OTX2, PITX2, BCS1L Specificity 2 % Genes 5 %
Corneal Dystrophy Panel. By Blueprint Genetics in Finland. OVOL2, CHRDL1, GJA8, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, COL17A1, KERA, LCAT, FOXE3, MAF, CHST6, ZNF469, PRDM5, LOXHD1, SLC4A11, TCF4, GSN , (...) View the complete list with 7 more genes Panel GTR000552818 complete gene list OVOL2, CHRDL1, GJA8, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, COL17A1, KERA, LCAT, FOXE3, MAF, CHST6, ZNF469, PRDM5, LOXHD1, SLC4A11, TCF4, GSN, KRT3, KRT12, COL5A1, CYP4V2, PITX2, TGFBI, ZEB1 Specificity 4 % Genes 5 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel. By Blueprint Genetics in Finland. COX7B, BMP7, HMX1, SLC38A8, ADAMTS18, SMOC1, MAB21L2, PXDN, ERCC5, FRAS1, FREM2, GRIP1, ALDH1A3, TENM3, PRSS56, BMP4, VSX2, FREM1, RARB, GJA1 , (...) View the complete list with 34 more genes Panel GTR000552747 complete gene list COX7B, BMP7, HMX1, SLC38A8, ADAMTS18, SMOC1, MAB21L2, PXDN, ERCC5, FRAS1, FREM2, GRIP1, ALDH1A3, TENM3, PRSS56, BMP4, VSX2, FREM1, RARB, GJA1, ERCC6, RBP4, FOXE3, MITF, ZIC2, NAA10, TFAP2A, ERCC2, VPS13B, SIX3, RAB3GAP1, PQBP1, COL4A1, SMCHD1, CHD7, PAX2, HESX1, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, OCRL, ABCB6, PAX6, RAX, FOXL2 Specificity 2 % Genes 5 %
Axenfeld-Rieger syndrome type 1. By Bioarray in Spain. PITX2 Specificity 100 % Genes 5 %
Axenfeld-Rieger syndrome. By Bioarray in Spain. PITX2 Specificity 100 % Genes 5 %
Axenfeld-Rieger Syndrome Type 1 , Sequencing PITX2 Gene. By Reference Laboratory Genetics in Spain. PITX2 Specificity 100 % Genes 5 %
Axenfeld-Rieger Syndrome Type 1 , Deletions-Duplications (MLPA) PITX2 Gene. By Reference Laboratory Genetics in Spain. PITX2 Specificity 100 % Genes 5 %
Anterior Segment Dysgenesis (Peters Anomaly) , Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. PXDN, FOXE3, CYP1B1, PITX2, FOXC1, PITX3, PAX6 Specificity 15 % Genes 5 %
Connective Tissue Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...) View the complete list with 15 more genes Panel GTR000553469 complete gene list SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, COL4A5, SMAD4, PLOD1, COL5A2, COL5A1, CBS, PLOD3, FBN1, COL3A1, COL1A2, COL1A1, FBLN5 Specificity 3 % Genes 5 %
Connective Tissue Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...) View the complete list with 16 more genes Panel GTR000553480 complete gene list SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, COL4A5, SMAD4, PLOD1, COL5A2, COL5A1, CBS, PLOD3, FBN1, ELN, COL3A1, COL1A2, COL1A1, FBLN5 Specificity 3 % Genes 5 %
Marfan syndrome, EDS and other connective tissue disorders - different panels. By Institute of Human Genetics Cologne University in Germany. GATA5, DSE, B3GALT6, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, CHST14, TNXB, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3 , (...) View the complete list with 17 more genes Panel GTR000558417 complete gene list GATA5, DSE, B3GALT6, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, CHST14, TNXB, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, COL4A5, ADAMTS2, SMAD4, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ELN, COL3A1, COL1A2, COL1A1, B4GALT7 Specificity 3 % Genes 5 %
Aortic diseases Panel. By Health in Code in Spain. GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9 , (...) View the complete list with 15 more genes Panel GTR000530671 complete gene list GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9, MED12, FLNA, SMAD4, PTPN11, PLOD1, HRAS, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1, COL1A2, COL1A1, GAA Specificity 6 % Genes 10 %
Tempus xO assay. By Tempus Labs, Inc. in United States. SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...) View the complete list with 1693 more genes Panel GTR000558444 complete gene list SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B, JUND, CKS2, FGF21, VGLL2, MAPK11, BMX, PBX3, KDM5D, PRRX2, GFRA4, ASCL5, VEGFD, SMARCD1, EPHA6, MAPK12, HDGFL3, SMYD2, TRIM24, E2F5, CDX1, RELB, PPP6C, ZNRF3, FOXQ1, TBC1D12, YEATS4, POU2F2, PDPK1, CES1, USP9Y, ICOSLG, NKX2-8, MTCP1, HOXD11, TLX1, CCDC6, CBFA2T3, OLIG2, HLF, MLLT6, TAL2, HOXC11, LMO2, RAP1GDS1, MDS2, LYL1, SFPQ, WIF1, TRIM33, MAPK3, GID4, ZNF703, MEF2B, AURKA, TOP1, MAP3K6, FGF4, SMARCA1, SUZ12, NCOR2, FGF19, HES1, RHOA, BCL2L1, H3F3A, KLF4, CDK13, BCL11B, HLA-A, NUTM2B, NUTM2A, SSX2, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, BCL3, SET, BTG1, ADGRA2, ADGRL3, AHR, AFF1, ABCC1, AATK, ACVR2A, ACSL6, ACVR1B, ADAMTS20, ADGRB3, ADGRL2, PTPN6, PTPRD, RABEP1, PSPN, PTPN2, PTPN21, PTPRK, PTPRM, PTK2B, PTK2, PTGS2, RAD51AP1, PSIP1, PTPRG, PTTG1, PTGS1, PTPRR, RAD51B, PTPRJ, RBM14, RAD52, PTK7, PRSS8, PTK6, RAB25, SETD1B, SHB, RUNX3, RPS6KB1, SKIL, SGK1, RUVBL1, RIPK2, SETDB2, SGO2, SFRP1, RHOT1, SETD7, SLC22A3, SGO1, SF1, RNF40, SF3A1, RELA, RIPK1, SLC22A2, SHC4, SHC1, SETD4, SLC22A6, SH3GL1, ROCK2, SLC22A1, SKP2, SAV1, RSPO3, RHEB, RHOB, REC8, SETMAR, ROCK1, SETDB1, REL, SLC15A2, RPS6KB2, RPA1, SETD3, SETD9, RYK, RIPK3, SKOR1, RSPO2, TAOK3, SLC47A1, SMC2, SSTR3, SLC47A2, STAT6, SUV39H1, SMAD5, SSTR1, SMC6, STK36, TCF7L1, TEC, SMYD3, STARD3, SMYD5, SMC4, SUV39H2, TAOK2, SYK, TCL1A, SPDEF, SMC1B, TAOK1, SLCO2B1, TEAD3, STK19, SMARCA5, SSTR2, TEAD4, SPOPL, SP3, TAF1L, STYK1, SPEN, SLIT2, SOCS1, SLCO1A2, SMC5, TET3, SMYD4, TENM2, TEAD2, SP140L, SPI1, TERF1, STAT5A, SPRED2, SP140, TCF7, PRDM15, E2F1, CEBPB, AREG, PRKACB, PBX4, KAT5, FGF13, NFKBIB, PGF, SRMS, BBC3, SMURF1, FOSB, GUCY1A2, PHLPP1, SSTR4, ARTN, WNK2, INSRR, BUB3, CBX7, SHC3, IL13RA1, HES4, CEBPD, NFIC, IL9R, TCL1B, IL2RB, HDAC5, FKBP9, ZNF444, FGF22, ID4, SMYD1, RBMX, PRMT2, NFATC2, ZC3H12D, VGLL3, GSTT1, SPRY3, FOSL1, RBMXL1, GSK3A, ARHGAP10, WNT9B, NTF3, SPIB, SMARCD3, TNKS2, IL15RA, FGF11, RARG, VGLL4, SPRED3, SHC2, CARM1, ALKBH6, IL3RA, MAPK13, NRG4, CBX3, PDS5A, DACH2, BTG3, NKX2-4, HES2, ASCL2, MAPK14, SPOP, TFEC, SSX1, SS18, SOX8, SP100, SULT1A1, SMURF2, KMT5C, STAT4, SRGAP3, SPIC, SSX3, TBX2, ELOC, WNT11, TLR7, NSD3, WNT2B, ZNF668, ZNF471, ZC3H7B, TLK2, TLR8, WNT2, ZMYND8, WNT5B, WNT8B, TGFA, WNT7B, WWTR1, WNT16, TLR10, ZNF607, WISP1, YWHAB, WNT6, YWHAH, ZBTB33, XIRP2, XPO1, YES1, YY1, ZNF704, ZBTB7B, ZNF217, WAPL, TLX2, VHLL, VAV2, TNFRSF17, TRAF7, UBE2D2, TXK, TNK1, TRIB3, TRAF3IP3, TYRO3, UHRF2, TP53BP1, TLR9, TRRAP, TRIB2, TNFRSF14, UBE4A, TPTE, TOP2A, UGT1A4, TRAF1, VEGFB, UBE2D1, U2AF2, VGLL1, TMPRSS2, UBE2D4, TSHZ3, VAV3, TRIM66, TOP2B, VTCN1, UHRF1, PRMT5, PIK3C2G, PRDM10, PLAG1, PLCG1, PIK3R4, PRDM4, PRMT8, PRCC, PRMT3, PIK3C2B, PNRC1, PRKCI, PRDM14, PLK2, POU6F1, PREX2, PPP1R1C, PRDM11, PRDM7, PLAGL2, PRSS3, PIK3R3, PRDM6, PPFIA1, PPARD, PRMT6, POU5F1B, PIK3C2A, POU2AF1, PLK3, POU5F2, PIM1, PMAIP1, PRDM2, PRMT1, PLK1, POU5F1, PIM2, PRDM1, PIK3C3, PHLPP2, HLTF, HEY2, HIST1H3B, HIF1AN, HDAC1, HBEGF, HDGF, HDAC3, HDAC9, HEY1, GTPBP4, HIST1H1E, HDAC10, HIST1H4E, HDAC2, HIF1A, HDAC11, HCK, HDAC7, IL18RAP, AJUBA, JADE1, HOXD3, IKZF2, ID1, JUNB, IL1R2, IQGAP3, KDM2A, IKBIP, IL5RA, PVT1, PTPRB, KDM7A, IL1RAP, HOXD4, KAT8, KDM3B, ID3, KDM2B, KDM4D, IL12RB2, JAK1, KAT2A, JUN, KLF5, KDM4C, IRAK1, HOXA10, KDM1B, KAT7, HOXC10, INTS12, KMT5A, IRS4, HSPBAP1, JMJD7, IL1R1, KDM8, MAP3K21, JMJD8, ING4, HOXA9, IL20RA, HOXB3, KDM5B, KDM4B, IL6ST, JAZF1, ING1, IQGAP2, INPP4B, IL17RB, KDM3A, KLF12, KMT2E, IL3, IQGAP1, JMJD6, IFNLR1, ID2, IL22RA2, IL22RA1, IKZF3, HSP90AB1, HSP90AA1, HNRNPA3, KDM4A, ITPKB, IL20RB, JMJD4, JARID2, ARPC1B, BAZ1B, BAG4, LTK, ASPSCR1, APEX1, LRP1B, BAZ1A, LEF1, LGR6, LGR5, APH1A, LPP, LSM1, ARNT, BAZ2A, BCL2L11, BAZ2B, BACH2, LMO7, LMTK2, ASXL2, ARHGAP35, LMTK3, ARPC1A, BACH1, ATAD2, BCL2L2, AURKB, LMO1, ATF1, LATS1, BCAR3, ASCL3, ASCL4, LDB1, ASH2L, ATAD2B, LATS2, ARFRP1, LGR4, ARHGAP26, BABAM1, BCL2A1, MPG, BIRC8, MGA, MOB1B, MLLT11, MAP2K5, MINK1, MAP2K3, MAST1, MAPK6, MAP4K2, BPTF, BUB1, MAP3K13, MAST2, MDM4, MLLT10, MAML1, MATK, MAP3K9, MAP2K4, MAGED1, MAP4K3, BCL9, MAP4K5, BRD3, BTRC, MAP2K7, MOB1A, MRTFA, BIRC2, MAPK7, BTC, MCL1, MAP3K19, MAML3, MOS, MAP3K2, MAPK15, MAP3K12, BCLAF1, BRWD1, BRD7, MED12L, BRD8, EMSY, MAML2, BIRC5, BRD9, BID, MAP4, TIE1, ZNF521, TLK1, ZBTB5, WNT3A, ZNF639, YWHAZ, TLR6, WNT8A, YWHAQ, ZC3H12A, ZCCHC7, TPTE2, TNKS, UBE2D3, TLX3, TRAF2, MAPK4, BMI1, MLST8, MAP4K4, BCL7A, MAPK9, MED29, MRTFB, MAP3K5, BRD1, BRPF3, BTG2, MAD2L1, BRPF1, MAP3K15, MAP3K4, MAP4K1, MAU2, MAP2K6, NR4A1, NUTM2F, NUTM1, CAPRIN2, CHD5, MST1R, ODC1, MST1, CMPK1, NUTM2G, CHEK1, NUMBL, CHD9, CADM2, MSH4, CARD6, CHIC2, E2F3, DVL2, ELF2, ELF3, PHF1, EPHA7, FAT3, FEV, FGR, ETV3L, FGF6, FBXO8, ESPL1, ESCO1, EREG, FBXO11, ETS2, ETV7, EZH1, FGF7, FGF1, ESRRA, ERG, ETV3, FES, FER, FHIT, FEN1, EXTL1, FAT2, TENT5C, FGF18, FGF5, ETV2, ETS1, FGF2, FOXM1, FOXA3, FOXL1, FOXN3, FOXO4, FOXP4, FRS2, GABPA, FZR1, FOSL2, FYN, FOS, FRS3, FOXO3, FRK, GAB1, FUBP1, FLT3LG, NFKBIZ, NCOA2, CD274, NCOR1, CBX1, CEBPG, CDK15, NPPB, NEK11, CDK18, NCOA1, CD86, CDH10, MTDH, CD276, NFATC3, CDK1, NAB1, CDC42, CDK8, NEK4, CCND3, CDK10, CDKN1A, CDH20, NEK6, NEK7, NFIB, NKX3-1, CD1D, CD22, CDK3, CECR2, NFATC1, NQO1, CDKN3, NCK1, NKX2-3, MYB, CBX4, CDK20, CDH11, CEBPZ, CDH5, NEK5, CDK7, CDK2, CCNL1, CCNB3, CBX6, CDK14, CES2, CD28, NFATC4, CBX5, CD80, CDX2, CDC25C, CDK17, CDK9, NCOA3, NFKBID, NOTCH4, NCK2, IKBKE, IL18R1, NPR1, CDH2, CDC25B, NOTCH2NLA, CDC25A, NEK3, CCNE2, NFKBIE, NEK10, CDC20, MYBL1, NAB2, CBX8, CBFA2T2, MYOD1, GRB2, GPS2, GRK4, GSK3B, GRM8, GRK5, GRM3, GRB7, PTGIS, RAD54B, RAD54L, SSTR5, TCF7L2, PPM1D, POU6F2, NR4A2, PRKACA, MAD1L1, ALOX5, ZNF750, EPHB2, TLR2, SMAD7, MIPOL1, IL6R, IRF5, PGR, HMGA2, IRS1, IRF4, HMGA1, IRS2, IL4R, IL23R, GLCCI1, FKBP5, CREB1, CSNK1D, CD44, CHUK, ABCG2, PAK5, BAX, HSD3B1, HTR2A, TBL1X, RBM15, FOLH1, FOXA1, FOXA2, TRAF6, PIK3CG, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, DOCK2, MAP3K14, IL17RC, PAX7, SEM1, SOX1, EPHB4, TRIB1, PPARA, PERP, SMAD1, ESR2, PRDM9, RBMXL2, CHD1, PAX1, RHOH, SP110, FGF16, DRD1, PRKAR1B, TAF15, EWSR1, ELP3, UBR5, AXIN1, ADRB1, SLC19A1, MYBL2, PTPRT, EGR1, ABI1, CRLF2, MLF1, INHBA, ARNT2, IKBKB, LCK, TLR5, XBP1, YAP1, CDK11A, CYP2B6, PHIP, ADAM17, KLF6, BCL10, CYP3A5, RRM1, NTF4, ESR1, SS18L1, STAG1, CRHR1, PEAR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, IGF2, ELK1, BRD2, GLI1, STAT2, DACH1, MXD1, PRKD1, RAC1, RICTOR, EIF1AX, NRIP1, CHD3, NRG3, CARD10, CNOT3, NUP98, NUMB, CHD6, CNTFR, CSF1, CTSL, CRTC1, CRTC3, CSNK1E, COPS3, CTSS, CSK, CREM, CREB3L4, CTCFL, CRTC2, PAK1, PARP4, DCUN1D1, DDX6, PATZ1, DDR1, PDGFC, PARP2, PAK4, PAK6, DIS3, PCBP1, CYP2J2, PAXIP1, PBX2, DDX5, DIRAS3, PDCD1, PBRM1, DDIT3, DAXX, CYP2C8, DCUN1D2, PDGFD, PDCD1LG2, EPHB1, ELK4, ELF5, E2F6, EPHA3, E2F7, EBF1, DOT1L, EPHA1, ELF1, ELK3, DYRK2, PEG3, EPHB6, EHF, EPHA5, PHF2, EHMT2, EPHA8, EPHA4, DMXL1, EPGN, EPHB3, PDS5B, DNMT3L, ECT2L, ELF4, PARP1, SETD1A, KDM5A, CNKSR1, KDM6B, TRAF3IP1, CTNND1, DVL3, EED, TBX22, NKX2-6, ERBB4, JMJD1C, PPP2R1A, HDAC6, KAT2B, KMT5B, ASH1L, TRIO, MAP3K7, CIC, MAPK8, TET1, CHD4, BRDT, CBX2, PRLR, BCL11A, SMARCD2, KDM1A, AXL, PRDM13, NRTN, NONO, PRDM12, WNT4, ROR2, DNMT3B, DHH, HOXA13, ESCO2, CCND2, ZNF423, ZBTB20, MNX1, NKX2-2, IL2RA, NFIA, WNT5A, NTRK2, PRMT7, SAMD9, CARD11, POT1, TRAF3, EPOR, NOTCH2, TYK2, PRKDC, IL10RB, ICOS, PIK3R1, VKORC1, IL10RA, CTLA4, ABCC2, NFKB2, STK4, IL12RB1, CIITA, AIP, FADD, NFKBIA, PIK3CD, BCR, PTPRC, STAT5B, RAC2, GFI1, G6PC3, ITK, FASLG, XIAP, ELANE, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, INSR, GNA11, AXIN2, POLE, ABRAXAS1, ZAP70, IL7R, CD40LG, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, RARB, GFI1B, HOXA11, TBXAS1, GNAQ, GGCX, GATA6, GLIS3, BLK, PAX4, AKT2, ABCA1, ABCG1, GREM1, POLD1, APOB, PCSK9, APOA1, ACVR2B, SLC6A3, DRD2, HMGCR, CSF1R, IL11RA, MYCN, PIK3CA, GLIS2, NEK8, USB1, THPO, ERCC4, VEGFA, DIAPH2, TLR1, BDNF, SLC6A4, STK3, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, CYP2C19, FANCE, FANCF, FANCG, FANCA, KITLG, NOD2, SMAD2, CREB3L1, WNT1, NR3C2, GNAS, NOP10, NHP2, DBH, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, ACE, MBD1, MBD3, WNK3, PRSS1, FGF10, SH2D1A, FLT4, TEK, VEGFC, NT5C2, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, HELLS, SMARCE1, ARID2, ERBB3, RIPK4, NEK9, NEK2, MYL3, MYL2, DSC2, TNNT2, TPM1, JUP, DSG2, PRKAG2, TNNI3, NKX2-5, PRDM16, ACTC1, NKX2-1, CSF2RB, CSF2RA, SMAD9, TERT, BMPR1B, TERC, MAF, CDH3, CTNNA1, TFG, KDM6A, TP63, AKAP9, KCNJ5, RYR2, MITF, PKP2, CACNB2, GLI3, EZH2, NFIX, DNMT3A, ACVR1, PRDM5, MYH11, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ATR, GLI2, ABCB1, MTOR, SPRED1, SOX9, TWIST1, POR, RAB23, CDK16, ZMYM3, KLF8, SOX3, TAF1, BRWD3, RBM10, USP9X, DKC1, FANCB, AFF2, PHF8, FOXP3, RASA1, RPL5, GATA1, KAT6B, FAT4, LZTR1, CTNNB1, ARID1B, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, DIAPH3, ROR1, GATA3, FGF3, CDC14A, PTPRQ, KCNQ1, SOX10, PAX3, DNMT1, DIAPH1, ERCC3, ERCC2, HGF, ZEB2, PICALM, ROBO2, IL17RA, TRAF3IP2, DEK, MSH3, PML, AURKC, MAFB, SOX17, EGF, PALLD, CTNNA2, RNF213, DDR2, MDM2, WNT10B, IGF1R, ETV5, MLH3, FBXW11, MALT1, SMAD6, IL21R, NFKB1, ABL2, DUSP22, DDB2, MTAP, CEBPE, ARID5B, PRPF40B, CDK12, TBX3, HDAC4, BCL2, SLC26A3, CCND1, IGF1, NR3C1, TWIST2, TMC8, CYP1A2, TMC6, FGF9, HR, XPC, RBPJ, MAP3K3, CDK19, HOXA3, GRB10, KAT6A, DDX3X, HOXB13, DHFR, KEL, HLA-B, HOXD10, NGF, CYP2C9, CD79B, CD79A, BLNK, VAV1, SLCO1B3, SLCO1B1, LIFR, WNK4, CUL3, GDNF, ASCL1, B2M, KDSR, GATA5, PLCG2, HTR1A, CARD8, PSENEN, LYN, NCSTN, TNFAIP3, ZNF384, WNT10A, KDR, FLT1, NLRP1, FLG, CTNNA3, CYLD, ALOX12B, NKX3-2, HOXD13, NSD2, GALNT12, BUB1B, RAD51, PRDM8, XPA, MAPK10, FGF12, ERCC5, CAMTA1, KMT2B, PDGFB, PDGFRB, DICER1, CDH7, CYP2R1, PAX8, ASXL3, PLAGL1, WRN, PLK4, CDC6, TCF12, ERF, CRBN, CTCF, CLIP1, SETD5, ZMYND11, CDK6, CENPE, FLI1, RUNX1T1, SRC, CDK5, FGF17, MAMLD1, FSHR, NEK1, ICK, IRF6, MAP3K1, WNT7A, SETBP1, CUL4B, KDM5C, PAK3, PHF6, ATRX, TCF4, TBL1XR1, SETD2, MAGI2, KMT2D, SCN5A, GRIN2A, CHD2, KCNH2, MCPH1, FGF14, MUSK, SMCHD1, TMEM43, SYNE1, MYBPC3, FUS, RYR1, CACNA1S, PDK1, MYH7, FGF23, GHR, CYP21A2, HSD11B2, FGF8, GNRHR, LHCGR, FGFR1, NR0B1, LRRK2, NF1, TBP, PPP2R2B, NOTCH3, PSEN2, WNK1, NTRK1, LMNA, DNM2, EGR2, NDRG1, DPYD, PKHD1, BTK, WAS, MPL, UGT1A1, G6PD, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, VDR, TINF2, SOS1, SHOC2, RUNX2, PTPN11, NRAS, MAP2K1, LEPR, LDLR, KRAS, HRAS, GLA, FOXG1, CREBBP, CHD7, BRAF, BLM, FANCC, ELP1, ARX, AR, FGFR3, TSHR, IL2RG, SDHA, MAK, TEAD1, PHB, PLA2G2A, PAX2, MEN1, STAT3, TMEM127, ZFHX3, NCOA4, CYP17A1, SOX2, PPP2R1B, PRKN, BCOR, AMER1, MAOA, PHOX2A, CTSD, HAX1, SDHB, IDH2, MERTK, PRPF6, GOT1, CHD1L, CD70, MAD2L2, MAP3K8, PRRX1, NUP93, FAT1, TNK2, GPC5, RXRA, CYP4F2, CYP2A6, TBX18, DVL1, RNF43, DCC, OSMR, HOXC13, IHH, IGF2R, CDKN2C, CKS1B, MECOM, RPN1, BIRC3, MYC, BCL6, LRP6, SMO, YWHAE, PTCH2, FGF20, PTPRF, CDKN2B, MLLT1, EPHA2, MLLT3, NAT2, MN1, ADRB2, NUP214, CYP3A4, AFF3, TAL1, ZBTB16, PBX1, TCF3, RARA, ERCC1, PAX9, CBFB, ERBB2, WNT3, FBN1, FH, RAF1, SDHC, KIF1B, DSP, SHH, COMT, CASP8, MC1R, RET, HNF1B, SDHAF2, PSEN1, RB1, TLR4, TGFB1, PAX6, WT1, STAT1, COL3A1, LRP5, PPARG, HNF1A, FOXL2, FKBP10, ABCB4, ABCB11, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 29 %
GATA5. By Institute for Human Genetics University Clinic Freiburg in Germany. GATA5 Specificity 100 % Genes 5 %
Connective Tissue Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...) View the complete list with 16 more genes Panel GTR000553483 complete gene list SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, COL4A5, SMAD4, PLOD1, COL5A2, COL5A1, CBS, PLOD3, FBN1, ELN, COL3A1, COL1A2, COL1A1, FBLN5 Specificity 3 % Genes 5 %
Aorta Panel. By Blueprint Genetics in Finland. ADAMTS17, SMAD6, ADAMTS10, GATA5, ADAMTSL4, ENPP1, ABL1, BGN, SMAD2, MAT2A, MFAP5, TGFB3, EFEMP2, ZNF469, ABCC6, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...) View the complete list with 21 more genes Panel GTR000552671 complete gene list ADAMTS17, SMAD6, ADAMTS10, GATA5, ADAMTSL4, ENPP1, ABL1, BGN, SMAD2, MAT2A, MFAP5, TGFB3, EFEMP2, ZNF469, ABCC6, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, ALDH18A1, FBN1, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5 Specificity 3 % Genes 5 %
Atrioventricular Block Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. NKX2-5, TRPM4, SCN5A, SCN1B, EMD, DES, LMNA Specificity 43 % Genes 15 %
NKX2.5 sequencing. By Genetic Services Laboratory University of Chicago in United States. NKX2-5 Specificity 100 % Genes 5 %
NKX2-5. By Institute for Human Genetics University Clinic Freiburg in Germany. NKX2-5 Specificity 100 % Genes 5 %
RhythmNext. By Ambry Genetics in United States. TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B , (...) View the complete list with 16 more genes Panel GTR000560626 complete gene list TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, CAV3, LMNA, DSP Specificity 25 % Genes 43 %
RhythmFirst reflex RhythmNext. By Ambry Genetics in United States. TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B , (...) View the complete list with 16 more genes Panel GTR000560629 complete gene list TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, CAV3, LMNA, DSP Specificity 25 % Genes 43 %
NKX2-5 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. NKX2-5 Specificity 100 % Genes 5 %
Isolated Nonsyndromic Congenital Heart Disease/Defects. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. NKX2-5 Specificity 100 % Genes 5 %
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MMP21, PIH1D3, AK7, ANKS6, CFAP53, ACVR2B, LEFTY2, GDF1, ZIC3, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3 , (...) View the complete list with 16 more genes Panel GTR000505669 complete gene list MMP21, PIH1D3, AK7, ANKS6, CFAP53, ACVR2B, LEFTY2, GDF1, ZIC3, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, ZMYND10, ARMC4, DNAAF4, CFAP298, SPAG1, CCDC151, GAS8, TTC25, FOXH1, NODAL, CCDC39, INVS Specificity 3 % Genes 5 %
Ciliopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L , (...) View the complete list with 73 more genes Panel GTR000505776 complete gene list ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, DNAH8, FOXH1, NODAL, TMEM231, DCDC2, OFD1, AHI1, TMEM216, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, CCDC39, RPGR, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 2 % Genes 5 %
Atrioventricular block Deletion/ Duplication panel. By Connective Tissue Gene Tests in United States. NKX2-5, TRPM4, SCN5A, SCN1B, EMD, DES, LMNA Specificity 43 % Genes 15 %
Single gene testing NKX2-5. By CeGaT GmbH in Germany. NKX2-5 Specificity 100 % Genes 5 %
Left Ventricular Non-Compactation Panel. By Health in Code in Spain. MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1 , (...) View the complete list with 16 more genes Panel GTR000521460 complete gene list MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1, HCN4, KCNH2, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, TTN, LMNA, PTPN11, DMD, MLYCD, TAZ, DNAJC19, DSP Specificity 6 % Genes 10 %
Aortic Valvular Diseases Panel. By Health in Code in Spain. ADAMTSL4, PRKG1, NKX2-5, TGFB3, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PTPN11, PLOD1 , (...) View the complete list with 10 more genes Panel GTR000521466 complete gene list ADAMTSL4, PRKG1, NKX2-5, TGFB3, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PTPN11, PLOD1, HRAS, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1, COL1A2, COL1A1, GAA Specificity 4 % Genes 5 %
Non-compaction cardiomyopathy. By Health in Code in Spain. NNT, MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1 , (...) View the complete list with 17 more genes Panel GTR000530653 complete gene list NNT, MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1, HCN4, KCNH2, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, TTN, LMNA, PTPN11, DMD, MLYCD, TAZ, DNAJC19, DSP Specificity 6 % Genes 10 %
Cardiac conduction disease Panel. By Health in Code in Spain. IRX3, KCNK17, TNNI3K, CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4 , (...) View the complete list with 14 more genes Panel GTR000530659 complete gene list IRX3, KCNK17, TNNI3K, CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, EMD, SYNE2, SYNE1, LDB3, MYH7, DES, LMNA, GLA, GAA, TTR, HFE Specificity 27 % Genes 43 %
CONGENITAL HYPOTHYROIDISM. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PAX9, TRHR, TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, IYD , (...) View the complete list with 2 more genes Panel GTR000531639 complete gene list PAX9, TRHR, TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, IYD, SECISBP2, SLC26A4 Specificity 5 % Genes 5 %
Isolated Nonsyndromic Congenital Heart Disease: NKX2-5 Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. NKX2-5 Specificity 100 % Genes 5 %
Isolated Nonsyndromic Congenital Heart Disease: NKX2-5 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. NKX2-5 Specificity 100 % Genes 5 %
Arrhythmias: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CTNNA3, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, NKX2-5, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2 , (...) View the complete list with 17 more genes Panel GTR000512328 complete gene list CTNNA3, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, NKX2-5, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, DSP Specificity 33 % Genes 58 %
Ciliopathies NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...) View the complete list with 75 more genes Panel GTR000505731 complete gene list HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, NODAL, WDR35, OFD1, PKD2, UMOD, ATXN10, AHI1, TMEM216, PKHD1, CFTR, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, AIPL1, VHL Specificity 2 % Genes 5 %
Congenital Hypothyroidism, Nongoitrous NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. THRA, TSHB, PAX8, NKX2-5, TSHR Specificity 20 % Genes 5 %
THYROID HYPOPLASIA / ATHYREOSIS/ THYROID DYSGENESIS. By Laboratorio de Genetica Clinica SL in Spain. FOXE1, PAX8, NKX2-5, NKX2-1, TSHR Specificity 20 % Genes 5 %
Congenital Heart Disease, Sequencing NKX2-5 Gene. By Reference Laboratory Genetics in Spain. NKX2-5 Specificity 100 % Genes 5 %
Congenital Hypothyroidism, Sequencing NKX2-5 Gene. By Reference Laboratory Genetics in Spain. NKX2-5 Specificity 100 % Genes 5 %
Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes. By Reference Laboratory Genetics in Spain. TNNI3K, SCN10A, GJA5, TBX5, PRKAG2, NKX2-5, ACTC1, TRPM4, LAMP2, CACNA1D, SCN5A, HCN4, SCN1B, KCNJ2, EMD, DES, LMNA, GLA, GAA, TTR Specificity 25 % Genes 24 %
Congenital Heart Disease Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. TBX5, NKX2-5, TBX1 Specificity 34 % Genes 5 %
NKX2.5 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. NKX2-5 Specificity 100 % Genes 5 %
Heterotaxy V2 Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. BCL9L, CFAP53, NAT10, CFC1, GATA6, ACVR2B, CRELD1, LEFTY2, SHROOM3, GDF1, ZIC3, GJA1, NKX2-5, DNAH5, DNAH11, FOXH1, NODAL Specificity 12 % Genes 10 %
NKX2.5 deletion/duplication analysis. By Genetic Services Laboratory University of Chicago in United States. NKX2-5 Specificity 100 % Genes 5 %
Comprehensive Arrhythmia Panel. By GeneDx in United States. DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C , (...) View the complete list with 10 more genes Panel GTR000520446 complete gene list DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, CAV3, DSP Specificity 30 % Genes 43 %
NKX2-5. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. NKX2-5 Specificity 100 % Genes 5 %
Atrial septal defect 7, with or without AV conduction defects (sequence analysis of NKX2-5 gene). By CGC Genetics in Portugal. NKX2-5 Specificity 100 % Genes 5 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TRHR, TRH, TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, IGSF1, TSHB, PAX8, UBR1, GLIS3, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1 , (...) View the complete list with 6 more genes Panel GTR000523771 complete gene list TRHR, TRH, TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, IGSF1, TSHB, PAX8, UBR1, GLIS3, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, IYD, HESX1, SECISBP2, SLC26A4 Specificity 4 % Genes 5 %
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene. By PreventionGenetics PreventionGenetics in United States. NKX2-5 Specificity 100 % Genes 5 %
Heterotaxy panel. By Centogene AG - the Rare Disease Company in Germany. CFC1, ACVR2B, CRELD1, LEFTY2, GDF1, ZIC3, GJA1, NKX2-5, FOXH1, NODAL Specificity 10 % Genes 5 %
Atrial septal defect with atrioventricular conduction defects. By Centogene AG - the Rare Disease Company in Germany. NKX2-5 Specificity 100 % Genes 5 %
Hypothyroidism and Thyroid Hormone Resistance. By Asper Biogene Asper Biogene LLC in Estonia. TRHR, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, IYD, HESX1, SECISBP2 , (...) View the complete list with 1 more genes Panel GTR000557909 complete gene list TRHR, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, IYD, HESX1, SECISBP2, SLC26A4 Specificity 5 % Genes 5 %
Cardiac Conduction Disease Panel. By Health in Code in Spain. CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, EMD , (...) View the complete list with 8 more genes Panel GTR000521476 complete gene list CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, EMD, LDB3, MYH7, DES, LMNA, GLA, GAA, TTR, HFE Specificity 29 % Genes 39 %
Ciliopathies: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8 , (...) View the complete list with 92 more genes Panel GTR000512415 complete gene list HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, FOXH1, NODAL, WDR35, TMEM231, OFD1, PKD2, SCNN1B, SCNN1G, SCNN1A, UMOD, ATXN10, AHI1, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, AIPL1, VHL Specificity 1 % Genes 5 %
Arrhythmias: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C , (...) View the complete list with 9 more genes Panel GTR000558533 complete gene list DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, DSP Specificity 32 % Genes 43 %
Heterotaxy and Situs Inversus NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CFC1, ACVR2B, LEFTY2, GDF1, ZIC3, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3, FOXH1, NODAL, CCDC39, INVS Specificity 5 % Genes 5 %
NKX2-5. By Fulgent Genetics Fulgent Genetics in United States. NKX2-5 Specificity 100 % Genes 5 %
Hypothyroidism and Resistance to Thyroid Hormone Panel. By Blueprint Genetics in Finland. TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, IGSF1, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, HESX1, SECISBP2 , (...) View the complete list with 1 more genes Panel GTR000552665 complete gene list TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, IGSF1, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, HESX1, SECISBP2, SLC26A4 Specificity 5 % Genes 5 %
Atrial septal defect - atrioventricular conduction defects. By Bioarray in Spain. NKX2-5 Specificity 100 % Genes 5 %
NKX2-5 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. NKX2-5 Specificity 100 % Genes 5 %
CONGENITAL HYPOTHYROIDISM – NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, TSHB, PAX8, NKX2-5, NKX2-1, TSHR, IYD, SLC26A4 Specificity 8 % Genes 5 %
Conotruncal Heart Malformations Related Disorders , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. NKX2-6, GATA6, GDF1, NKX2-5, TBX1 Specificity 60 % Genes 15 %
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes. By Reference Laboratory Genetics in Spain. TG, TPO, SLC5A5, FOXE1, DUOXA2, THRA, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, IYD, SECISBP2, SLC26A4 Specificity 6 % Genes 5 %
Comprehensive Arrhythmias Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B , (...) View the complete list with 3 more genes Panel GTR000552174 complete gene list SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, CAV3 Specificity 35 % Genes 39 %
Long QT Syndrome and Short QT Syndrome. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. SCN4B, AKAP9, SNTA1, KCNE2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 47 % Genes 29 %
LQTS panel. By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS in Italy. SCN4B, AKAP9, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 47 % Genes 29 %
Long QT Syndrome Sequencing Panel. By GeneDx in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 50 % Genes 29 %
Long QT Syndrome Del/Dup Panel. By GeneDx in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 50 % Genes 29 %
RhythmFirst. By Ambry Genetics in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 50 % Genes 29 %
Long QT syndrome 10 (sequence analysis of SCN4B gene). By CGC Genetics in Portugal. SCN4B Specificity 100 % Genes 5 %
Long QT Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 40 % Genes 29 %
Long QT syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. CALM3, NOS1AP, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 32 % Genes 29 %
Long QT syndrome NGS panel. By Connective Tissue Gene Tests in United States. CALM3, NOS1AP, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 32 % Genes 29 %
Long QT syndrome panel. By Centogene AG - the Rare Disease Company in Germany. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 47 % Genes 29 %
Arrhythmia, familial panel. By Centogene AG - the Rare Disease Company in Germany. NPPA, DSC2, JUP, DSG2, PLN, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C , (...) View the complete list with 9 more genes Panel GTR000503343 complete gene list NPPA, DSC2, JUP, DSG2, PLN, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, TMEM43, CAV3, DSP Specificity 35 % Genes 48 %
Long QT Syndrome Panel. By CeGaT GmbH in Germany. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 40 % Genes 29 %
SCN4B gene sequencing. By Health in Code in Spain. SCN4B Specificity 100 % Genes 5 %
Long QT Syndrome Extended Panel. By Health in Code in Spain. KCNE5, FHL2, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...) View the complete list with 3 more genes Panel GTR000521459 complete gene list KCNE5, FHL2, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 35 % Genes 39 %
Long and Short QT Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 50 % Genes 29 %
Long QT syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 47 % Genes 29 %
Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...) View the complete list with 323 more genes Panel GTR000509399 complete gene list EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, VANGL1, CLCN2, CCL2, SPRED1, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, FUCA1, PEX6, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, GRIN1, NRXN1, SCN8A, MAGI2, KMT2D, MFSD8, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, TBC1D24, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, HCN1, GRIN2B, GABRD, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, VRK1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, GPC3, PTCH1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, TACO1, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, ABAT, TMEM70, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, CPT2, PAX6, ADSL, C12orf65, BCS1L, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 2 % Genes 24 %
SCN4B. By Fulgent Genetics Fulgent Genetics in United States. SCN4B Specificity 100 % Genes 5 %
Comprehensive Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...) View the complete list with 427 more genes Panel GTR000531707 complete gene list RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5, HDAC4, SLC6A5, GLRA1, GLRB, DHFR, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, KCNH5, C12orf57, ANK3, MED17, CCDC88C, SNAP29, ASNS, LIG4, NHEJ1, AKT3, SLC46A1, COX10, ARL13B, RPGRIP1L, PGK1, ADAR, SMARCA2, KDM6A, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, SPRED1, CLCN4, UBE2A, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, MED12, NTNG1, FUCA1, PEX6, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, DPM2, LAMA2, SLC1A3, CACNB4, KCNA1, POMT1, POMT2, VRK1, DYNC1H1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, HNRNPH1, KCNAB2, GPC3, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, DHCR7, CHRNA7, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, SLC6A8, FARS2, TACO1, WWOX, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, GLUD1, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, SLC25A12, ABAT, TMEM70, BOLA3, LIAS, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, ME2, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, MAGI2, CACNA2D2, RBFOX1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PSAP, CPT2, AMACR, PAX6, ADSL, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 2 % Genes 24 %
Arrhythmia Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4 , (...) View the complete list with 5 more genes Panel GTR000522197 complete gene list SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 32 % Genes 39 %
Long QT Syndrome Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 47 % Genes 29 %
Long QT Syndrome NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CALM3, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 36 % Genes 29 %
SCN4B Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SCN4B Specificity 100 % Genes 5 %
Long QT Syndrome Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 40 % Genes 29 %
Ventricular Fibrillation, Familial Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 40 % Genes 29 %
Long QT Syndrome , Panel Massive Sequencing (NGS) 11 Genes. By Reference Laboratory Genetics in Spain. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 55 % Genes 29 %
Long QT Syndrome: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNE1, KCNJ2, CAV3 Specificity 34 % Genes 20 %
Long QT Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 34 % Genes 29 %
Long QT Syndrome Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 43 % Genes 29 %
SCN4B. By Institute for Human Genetics University Clinic Freiburg in Germany. SCN4B Specificity 100 % Genes 5 %
Long QT Syndrome Gene Sequencing & Del/Dup Panel. By GeneDx in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 50 % Genes 29 %
Cardiac conduction changes (NGS panel for 27 genes). By CGC Genetics in Portugal. TNNI3K, ALG10, PRKAG2, MYH6, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, KCNQ1 , (...) View the complete list with 7 more genes Panel GTR000523382 complete gene list TNNI3K, ALG10, PRKAG2, MYH6, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, CAV3 Specificity 30 % Genes 39 %
Long QT syndrome (NGS panel for 14 genes). By CGC Genetics in Portugal. ALG10, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 43 % Genes 29 %
Long QT Syndrome via SCN4B Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SCN4B Specificity 100 % Genes 5 %
Long QT syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. CALM3, NOS1AP, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 32 % Genes 29 %
Cardiac conduction abnormalities panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, KCNQ1 , (...) View the complete list with 13 more genes Panel GTR000509410 complete gene list DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, DES, CACNA1A, CAV3, LMNA, DSP Specificity 25 % Genes 39 %
Long QT syndrome type 10. By Centogene AG - the Rare Disease Company in Germany. SCN4B Specificity 100 % Genes 5 %
Long QT Syndrome 10. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN4B Specificity 100 % Genes 5 %
Long QT Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 43 % Genes 29 %
Standard Long QT syndrome Stage 2. By Health in Code in Spain. SCN4B, KCNJ2, CAV3 Specificity 67 % Genes 10 %
Long QT Syndrome Extended Panel. By Health in Code in Spain. KCND2, CALM3, KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1 , (...) View the complete list with 8 more genes Panel GTR000530467 complete gene list KCND2, CALM3, KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3, CAVIN1 Specificity 29 % Genes 39 %
LONG QT SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...) View the complete list with 3 more genes Panel GTR000531437 complete gene list KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 35 % Genes 39 %
Familial Arrhythmia Full Gene Sequencing Panel. By Integrated Genetics Westborough Integrated Genetics in United States. ATP1B1, GINS3, LIG3, NPPA, NOS1AP, DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2 , (...) View the complete list with 10 more genes Panel GTR000530315 complete gene list ATP1B1, GINS3, LIG3, NPPA, NOS1AP, DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, TMEM43, CAV3, DSP Specificity 27 % Genes 39 %
Arrhythmia NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GYG1, GJA5, NPPA, DSC2, JUP, DSG2, PRKAG2, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3 , (...) View the complete list with 18 more genes Panel GTR000505730 complete gene list GYG1, GJA5, NPPA, DSC2, JUP, DSG2, PRKAG2, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, DES, CAV3, LMNA, SLC25A20, CPT1A, DSP Specificity 29 % Genes 53 %
Sudden Death Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN , (...) View the complete list with 48 more genes Panel GTR000510871 complete gene list LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, TGFB3, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, FBN2, TGFBR2, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, TAZ, FBN1, SLC25A4, DSP, EYA4, PSEN1 Specificity 17 % Genes 53 %
Long QT syndrome type X. By Bioarray in Spain. SCN4B Specificity 100 % Genes 5 %
SCN4B Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN4B Specificity 100 % Genes 5 %
Phosphorus Long QT Syndrome Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN4B, SNTA1, KCNE2, TRDN, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 40 % Genes 29 %
Atrial Fibrillation via GJA5 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GJA5 Specificity 100 % Genes 5 %
GJA5. By Institute for Human Genetics University Clinic Freiburg in Germany. GJA5 Specificity 100 % Genes 5 %
Atrial fibrillation, familial 11 (sequence analysis of GJA5 gene). By CGC Genetics in Portugal. GJA5 Specificity 100 % Genes 5 %
Atrial fibrillation type 11. By Centogene AG - the Rare Disease Company in Germany. GJA5 Specificity 100 % Genes 5 %
GJA5. By Fulgent Genetics Fulgent Genetics in United States. GJA5 Specificity 100 % Genes 5 %
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5 , (...) View the complete list with 151 more genes Panel GTR000560763 complete gene list GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5, SEMA3E, ROR1, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, CDC14A, CD164, ATP2B2, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, MCM2, LARS2, CEMIP, RIPOR2, TMPRSS3, TECTA, MT-TS2, MT-TS1, SLC4A11, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, EDNRA, PAX3, DCDC2, DNMT1, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, ERCC3, ERCC2, EPS8, HGF, CLPP, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, BDP1, ADCY1, ACTG1, ACTB, SALL1, TBX1, KCNJ10, NR2F1, TBC1D24, COL4A5, SLC12A1, BSND, COL4A4, FGFR1, PMP22, PEX1, COL4A3, MET, FGFR2, POU3F4, GJB6, GJB2, CHD7, FGFR3, HARS2, SLC22A4, ALMS1, MANBA, AIFM1, TIMM8A, MYO7A, CISD2, KARS, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, OPA1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BCS1L, ANKH, USH1C, USH1G, ABHD12 Specificity 2 % Genes 10 %
NGS Hearing Loss Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. MITF, CATSPER2, GPSM2, MT-RNR1, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3 , (...) View the complete list with 71 more genes Panel GTR000548231 complete gene list MITF, CATSPER2, GPSM2, MT-RNR1, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3, FOXI1, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, TMPRSS3, TECTA, MT-TS1, SOX10, SERPINB6, SLC17A8, SNAI2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, MARVELD2, PJVK, OTOF, ILDR1, CRYM, COL11A2, GRHL2, MYO15A, MYO6, HGF, CLPP, EDN3, GIPC3, CCDC50, CLDN14, COCH, CACNA1D, CIB2, ATP6V1B1, ACTG1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, HARS2, MAN2B1, TIMM8A, MYO7A, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, HSD17B4, EYA4, EYA1, USH1C, USH1G Specificity 3 % Genes 10 %
LQT Multi-Gene Package. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 80 % Genes 20 %
KCNH2, KCNQ1, SCN5A. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNQ1, SCN5A, KCNH2 Specificity 67 % Genes 10 %
Audiome (hearing loss panel). By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SLC52A3, SLC52A2, MITF, GPSM2, GRXCR2, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9, LHFPL5, LRTOMT , (...) View the complete list with 86 more genes Panel GTR000553458 complete gene list SLC52A3, SLC52A2, MITF, GPSM2, GRXCR2, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9, LHFPL5, LRTOMT, FGF3, ESRRB, GSDME, TMC1, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, LARS2, TMPRSS3, TECTA, SLC4A11, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, OTOG, MARVELD2, OSBPL2, PJVK, OTOF, ILDR1, COL11A2, COL11A1, COL9A2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, CABP2, CIB2, ATP6V1B1, ATP6V1B2, TBC1D24, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, HARS2, ALMS1, TIMM8A, MYO7A, CISD2, SUCLA2, MSRB3, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BCS1L, USH1C, USH1G, ABHD12 Specificity 2 % Genes 10 %
Jervell and Lange-Nielsen syndrome (NGS panel of 2 genes). By CGC Genetics in Portugal. KCNQ1, KCNE1 Specificity 100 % Genes 10 %
Long QT syndrome. By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal in Norway. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 80 % Genes 20 %
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CASQ2, TRDN, CALM1, RYR2, ANK2, KCNQ1, SCN5A, KCNJ2 Specificity 38 % Genes 15 %
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GLE1, CHRNG, KAT6B, PEX12, PEX10, PEX26, PEX6, KCNQ1, SCN5A, KCNH2, CHRND, CHRNA1, MUSK, KLHL40, RAPSN, SUMF1, SLC17A5, PEX1, DOK7, CBL , (...) View the complete list with 20 more genes Panel GTR000552126 complete gene list GLE1, CHRNG, KAT6B, PEX12, PEX10, PEX26, PEX6, KCNQ1, SCN5A, KCNH2, CHRND, CHRNA1, MUSK, KLHL40, RAPSN, SUMF1, SLC17A5, PEX1, DOK7, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LIPA, KRAS, IDUA, HRAS, DHCR7, BRAF, GBA, GALNS, GUSB, CTSA, RAF1, GLB1, GNPTAB Specificity 5 % Genes 10 %
Long QT Syndrome (LQTS). By MGZ Medical Genetics Center in Germany. KCNE2, RYR2, KCNQ1, KCNE1, KCNH2, CAV3 Specificity 50 % Genes 15 %
Long QT syndrome. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 80 % Genes 20 %
Long QT syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. KCNQ1 Specificity 100 % Genes 5 %
Short QT syndrome type 2. By Centogene AG - the Rare Disease Company in Germany. KCNQ1 Specificity 100 % Genes 5 %
CentoICU platinum plus. By Centogene AG - the Rare Disease Company in Germany. OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...) View the complete list with 494 more genes Panel GTR000530427 complete gene list OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, GP9, ACTN1, ASNS, FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, CACNA1C, FUCA1, TJP2, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, PTPN11, POMC, PLOD1, PAH, QDPR, PTS, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 10 %
CentoICU platinum. By Centogene AG - the Rare Disease Company in Germany. FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...) View the complete list with 494 more genes Panel GTR000530428 complete gene list FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, CACNA1C, FUCA1, TJP2, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, PTPN11, POMC, PLOD1, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, GP9, ACTN1, ASNS, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, PAH, QDPR, PTS, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 10 %
Syndromic Hearing Loss Panel. By CeGaT GmbH in Germany. MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3 , (...) View the complete list with 42 more genes Panel GTR000522364 complete gene list MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, CDKN1C, CHD7, ALMS1, MANBA, TIMM8A, MYO7A, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, ANKH, USH1C, USH1G, ABHD12 Specificity 4 % Genes 10 %
Long QT syndrome 1. By Innovagenomics Innovagenomics S.L in Spain. KCNQ1 Specificity 100 % Genes 5 %
Short QT Syndrome 2. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNQ1 Specificity 100 % Genes 5 %
Jervell and Lange-Nielson Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. KCNQ1, KCNE1 Specificity 100 % Genes 10 %
Long QT syndrome, KCNQ1 sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. KCNQ1 Specificity 100 % Genes 5 %
KCNQ1 gene sequencing. By Health in Code in Spain. KCNQ1 Specificity 100 % Genes 5 %
Long QT Syndrome Short Panel. By Health in Code in Spain. KCNE2, RYR2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2 Specificity 63 % Genes 24 %
Long QT Syndrome Panel. By Health in Code in Spain. KCNE2, RYR2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2 Specificity 63 % Genes 24 %
Short QT syndrome. By Health in Code in Spain. CACNB2, CACNA1C, KCNQ1, CACNA1D, CACNA2D1, KCNH2, KCNJ2 Specificity 29 % Genes 10 %
Short QT Syndrome 2. By Clinical Genomics Maastricht University Medical Centre in Netherlands. KCNQ1 Specificity 100 % Genes 5 %
KCNQ1-Related Familial Atrial Fibrillation. By Clinical Genomics Maastricht University Medical Centre in Netherlands. KCNQ1 Specificity 100 % Genes 5 %
Long QT Syndrome 1. By Clinical Genomics Maastricht University Medical Centre in Netherlands. KCNQ1 Specificity 100 % Genes 5 %
Invitae Long QT Syndrome Panel. By Invitae in United States. CALM3, KCNE2, TRDN, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 39 % Genes 24 %
Invitae Short QT Syndrome Panel. By Invitae in United States. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 40 % Genes 10 %
Russell-Silver syndrome: Methylation detection and deletions-duplications analysis (MLPA) (KvDMR / H19DMR domains). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. IGF2, KCNQ1OT1, H19, KCNQ1, CDKN1C Specificity 20 % Genes 5 %
Short QT syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 40 % Genes 10 %
Sudden Cardiac Arrest (SCA): Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CASQ2, KCNE2, RYR2, ANK2, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 50 % Genes 24 %
Hearing Loss NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, MTAP, SPINK5, MYO1A, GJA1, LHX3, MITF, CATSPER2, GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2 , (...) View the complete list with 83 more genes Panel GTR000510709 complete gene list MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, MTAP, SPINK5, MYO1A, GJA1, LHX3, MITF, CATSPER2, GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, ATP2B2, TMC1, SMPX, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, SLC4A11, SOX10, SERPINB6, SLC17A8, SNAI2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, GRHL2, MYO15A, MYO6, MYO3A, ERCC3, ERCC2, HGF, EDN3, GIPC3, COL9A3, CCDC50, CLDN14, COCH, ATP6V1B1, ACTG1, ACTB, KCNJ10, BSND, PMP22, POU3F4, GJB6, GJB2, TIMM8A, MYO7A, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, JAG1, WFS1, TRMU, EYA4, PDZD7, EYA1, BCS1L, USH1C, USH1G Specificity 2 % Genes 10 %
Short QT NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 50 % Genes 10 %
Jervell and Lange-Nielsen Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. KCNQ1, KCNE1 Specificity 100 % Genes 10 %
Short QT Syndrome (SQTS) Panel. By Blueprint Genetics in Finland. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 40 % Genes 10 %
Long QT Syndrome (LQTS) Panel. By Blueprint Genetics in Finland. TECRL, CALM3, NOS1AP, AKAP9, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 32 % Genes 24 %
Comprehensive Hearing Loss and Deafness Panel. By Blueprint Genetics in Finland. WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E , (...) View the complete list with 159 more genes Panel GTR000552698 complete gene list WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5, SEMA3E, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, CDC14A, CD164, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, RIPOR2, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DCDC2, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, BDP1, ADCY1, ACTG1, SALL1, KCNJ10, SPATA5, TBC1D24, SLC33A1, COL4A5, BSND, COL4A4, PEX1, COL4A3, SMAD4, MET, CDKN1C, POU3F4, GJB6, GJB2, CHD7, FGFR3, HARS2, ALMS1, SUCLG1, MAN2B1, MANBA, AIFM1, TIMM8A, MYO7A, SUCLA2, KARS, MSRB3, DIABLO, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, TRMU, HSD17B4, EYA4, PDZD7, TYR, COL2A1, EYA1, TWNK, BCS1L, BTD, ANKH, USH1C, DNMT1, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, USH1G, ABHD12 Specificity 2 % Genes 10 %
Syndromic Hearing Loss Panel. By Blueprint Genetics in Finland. FDXR, SLC52A3, SLC52A2, LRP2, MGP, DCAF17, GJA1, MITF, PEX26, POLR1D, TFAP2A, SEMA3E, PEX6, MYH9, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1 , (...) View the complete list with 66 more genes Panel GTR000552639 complete gene list FDXR, SLC52A3, SLC52A2, LRP2, MGP, DCAF17, GJA1, MITF, PEX26, POLR1D, TFAP2A, SEMA3E, PEX6, MYH9, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, LARS2, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, DNMT1, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, CLPP, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, ACTG1, SALL1, KCNJ10, COL4A5, BSND, COL4A4, PEX1, COL4A3, SMAD4, CDKN1C, CHD7, HARS2, ALMS1, MAN2B1, MANBA, TIMM8A, MYO7A, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, TWNK, BCS1L, BTD, ANKH, USH1C, USH1G, ABHD12 Specificity 3 % Genes 10 %
Long QT syndrome type I. By Bioarray in Spain. KCNQ1 Specificity 100 % Genes 5 %
Short QT Syndrome Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 40 % Genes 10 %
KCNQ1 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. KCNQ1 Specificity 100 % Genes 5 %
Short QT Syndrome NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 34 % Genes 10 %
Long QT Syndrome 1 (KCNQ1) Targeted Testing. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. KCNQ1 Specificity 100 % Genes 5 %
KCNQ1 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. KCNQ1 Specificity 100 % Genes 5 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel. By Otogenetics in United States. MIR183, TFCP2, MIR182, OTOR, MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, HAL, ECE1, MTAP, GJB4, SPINK5, FAS, MT-TL2, MT-TM, MT-TD, MT-TQ , (...) View the complete list with 109 more genes Panel GTR000552366 complete gene list MIR183, TFCP2, MIR182, OTOR, MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, HAL, ECE1, MTAP, GJB4, SPINK5, FAS, MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MYO1A, GJA1, LHX3, MITF, CATSPER2, GPSM2, MT-RNR1, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, CEMIP, TMPRSS3, TECTA, MT-TS2, MT-TS1, SLC4A11, STRC, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, EDNRA, PAX3, DIAPH1, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL9A2, GRHL2, MYO15A, MYO6, MYO3A, ERCC3, ERCC2, HGF, GIPC3, COL9A3, CCDC50, CLDN14, COCH, ATP6V1B1, ATP6V1B2, ACTG1, ACTB, KCNJ10, NR2F1, BSND, MT-TK, MT-TL1, GJB1, PMP22, POU3F4, GJB6, GJB2, FGFR3, SOX2, TIMM8A, MYO7A, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, JAG1, WFS1, EYA4, PDZD7, BCS1L, USH1C, USH1G Specificity 2 % Genes 10 %
Short QT Syndrome Type 2 , Sequencing KCNQ1 Gene. By Reference Laboratory Genetics in Spain. KCNQ1 Specificity 100 % Genes 5 %
Long QT Syndrome Type 1 , Sequencing KCNQ1 Gene. By Reference Laboratory Genetics in Spain. KCNQ1 Specificity 100 % Genes 5 %
Short QT Syndrome , Panel Massive Sequencing (NGS) 3 Genes. By Reference Laboratory Genetics in Spain. KCNQ1, KCNH2, KCNJ2 Specificity 67 % Genes 10 %
OtoSCOPE. By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States. LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR , (...) View the complete list with 132 more genes Panel GTR000323596 complete gene list LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TJP2, S1PR2, SLC26A5, ROR1, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CDC14A, CD164, ATP2B2, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, MCM2, LARS2, RIPOR2, TMPRSS3, TECTA, MT-TS1, TCOF1, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DCDC2, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CIB2, ATP6V1B1, BDP1, ADCY1, ACTG1, TBX1, KCNJ10, TBC1D24, COL4A5, BSND, COL4A4, FGFR1, MT-TL1, PEX1, COL4A3, MET, FGFR2, POU3F4, GJB6, GJB2, SLC22A4, ALMS1, AIFM1, TIMM8A, MYO7A, CISD2, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, OPA1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, TWNK, USH1C, USH1G Specificity 2 % Genes 10 %
Short QT Syndrome Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 34 % Genes 10 %
Beckwith-Wiedemann Syndrome. By Genetics Laboratory Shodair Children's Hospital in United States. H19, KCNQ1 Specificity 50 % Genes 5 %
Cardiac Arrhythmia Gene Panel. By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand. SCN10A, MYL2, DSC2, RBM20, TNNT2, TPM1, DSG2, MYH6, TNNI3, KCNA5, CASQ2, KCNE2, RYR2, PKP2, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B , (...) View the complete list with 8 more genes Panel GTR000553668 complete gene list SCN10A, MYL2, DSC2, RBM20, TNNT2, TPM1, DSG2, MYH6, TNNI3, KCNA5, CASQ2, KCNE2, RYR2, PKP2, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, MYBPC3, BAG3, MYH7, LMNA, GLA, DSP Specificity 25 % Genes 34 %
KCNQ1. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNQ1 Specificity 100 % Genes 5 %
KCNQ1. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNQ1 Specificity 100 % Genes 5 %
OtoGenome Test for Hearing Loss (110 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. CEP78, SLC52A3, SLC52A2, KITLG, MITF, CATSPER2, GPSM2, MT-RNR1, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9 , (...) View the complete list with 90 more genes Panel GTR000509148 complete gene list CEP78, SLC52A3, SLC52A2, KITLG, MITF, CATSPER2, GPSM2, MT-RNR1, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, ESRRB, GSDME, CDC14A, CD164, TMC1, SMPX, SLITRK6, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, RIPOR2, TMPRSS3, TECTA, MT-TS1, STRC, SOX10, SERPINB6, SNAI2, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, OTOG, NLRP3, MARVELD2, OSBPL2, PJVK, OTOF, ILDR1, COL11A2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CIB2, ATP6V1B1, ADCY1, ACTG1, TBC1D24, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, CHD7, HARS2, ALMS1, TIMM8A, MYO7A, KARS, MSRB3, DIABLO, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, HSD17B4, EYA4, PDZD7, EYA1, BCS1L, USH1C, USH1G Specificity 2 % Genes 10 %
Short QT Syndrome Sequencing Panel. By GeneDx in United States. KCNQ1, KCNH2, KCNJ2 Specificity 67 % Genes 10 %
KCNQ1 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. KCNQ1 Specificity 100 % Genes 5 %
KCNH2, KCNJ2, KCNQ1. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNQ1, KCNH2, KCNJ2 Specificity 67 % Genes 10 %
CAV3, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2, CAV3 Specificity 67 % Genes 20 %
KCNQ1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNQ1 Specificity 100 % Genes 5 %
Long QT Syndrome 1 (sequence analysis of KCNQ1 gene). By CGC Genetics in Portugal. KCNQ1 Specificity 100 % Genes 5 %
Syndromic deafness (NGS panel for 62 genes). By CGC Genetics in Portugal. MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3 , (...) View the complete list with 42 more genes Panel GTR000523375 complete gene list MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, CDKN1C, CHD7, ALMS1, MANBA, TIMM8A, MYO7A, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, ANKH, USH1C, USH1G, ABHD12 Specificity 4 % Genes 10 %
Short QT syndrome (NGS panel for 3 genes). By CGC Genetics in Portugal. KCNQ1, KCNH2, KCNJ2 Specificity 67 % Genes 10 %
Long QT syndrome 1 (LQT1, deletion/duplication analysis on KCNQ1 gene). By CGC Genetics in Portugal. KCNQ1 Specificity 100 % Genes 5 %
Syndromic and non syndromic deafness (NGS panel for 127 genes). By CGC Genetics in Portugal. TMC2, MYO1A, MITF, GPSM2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TFAP2A, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA , (...) View the complete list with 107 more genes Panel GTR000523804 complete gene list TMC2, MYO1A, MITF, GPSM2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TFAP2A, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, OTOG, NLRP3, POLR1C, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, HGF, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ACTG1, KCNJ10, COL4A5, SLC12A1, BSND, COL4A4, COL4A3, CDKN1C, POU3F4, GJB6, GJB2, CHD7, ALMS1, MANBA, TIMM8A, MYO7A, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, EYA4, PDZD7, TYR, COL2A1, EYA1, ANKH, USH1C, USH1G, ABHD12 Specificity 2 % Genes 10 %
Short QT syndrome (NGS panel for 5 genes). By CGC Genetics in Portugal. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 40 % Genes 10 %
Jervell and Lange-Nielsen syndrome (sequence analysis of KCNQ1 gene). By CGC Genetics in Portugal. KCNQ1 Specificity 100 % Genes 5 %
Jervell and Lange-Nielsen syndrome (NGS panel of 2 genes). By CGC Genetics in Portugal. KCNQ1, KCNE1 Specificity 100 % Genes 10 %
Long QT Syndrome and Jervell and Lange-Nielsen syndrome via the KCNQ1 Gene. By PreventionGenetics PreventionGenetics in United States. KCNQ1 Specificity 100 % Genes 5 %
Short QT Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 34 % Genes 10 %
Short QT syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 34 % Genes 10 %
Short QT syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 34 % Genes 10 %
Short QT syndrome NGS panel. By Connective Tissue Gene Tests in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 34 % Genes 10 %
Short QT syndrome. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. KCNQ1, KCNH2 Specificity 50 % Genes 5 %
Jervell and Lange-Nielsen syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. KCNQ1 Specificity 100 % Genes 5 %
Atrial fibrillation type 3. By Centogene AG - the Rare Disease Company in Germany. KCNQ1 Specificity 100 % Genes 5 %
Long QT syndrome. By bio.logis Center for Human Genetics Diagnosticum in Germany. KCNQ1, KCNH2 Specificity 50 % Genes 5 %
QT syndrome, KCNQ1. By GGA - Galil Genetic Analysis in Israel. KCNQ1 Specificity 100 % Genes 5 %
KCNQ1-Related Familial Atrial Fibrillation. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNQ1 Specificity 100 % Genes 5 %
Long QT Syndrome 1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNQ1 Specificity 100 % Genes 5 %
Long QT Syndrome (KCNQ1, KCNH2, KCNE1;MLPA). By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNQ1, KCNE1, KCNH2 Specificity 67 % Genes 10 %
Standard Long QT syndrome Stage 1. By Health in Code in Spain. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 80 % Genes 20 %
Standard Short QT syndrome. By Health in Code in Spain. KCNQ1, KCNH2, KCNJ2 Specificity 67 % Genes 10 %
Short QT Syndrome Panel. By Health in Code in Spain. CACNB2, CACNA1C, KCNQ1, CACNA1D, CACNA2D1, KCNH2, KCNJ2 Specificity 29 % Genes 10 %
Long QT syndrome type 1: KCNQ1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNQ1 Specificity 100 % Genes 5 %
KCNQ1. By Fulgent Genetics Fulgent Genetics in United States. KCNQ1 Specificity 100 % Genes 5 %
Atrial Fibrillation Panel. By Blueprint Genetics in Finland. SCN10A, NUP155, GATA6, TBX5, KCNA5, KCNJ5, KCNE2, RYR2, CACNB2, SCN3B, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, LDB3, LMNA Specificity 53 % Genes 48 %
Long QT syndrome type I. By Bioarray in Spain. KCNQ1 Specificity 100 % Genes 5 %
iGene Cardiac Panel. By ApolloGen, Inc. in United States. APOB, PCSK9, MYL3, TNNT2, TPM1, DSG2, PRKAG2, TNNI3, ACTC1, RYR2, PKP2, KCNQ1, SCN5A, KCNH2, MYBPC3, MYH7, TTN, LMNA, LDLR, GLA , (...) View the complete list with 2 more genes Panel GTR000525920 complete gene list APOB, PCSK9, MYL3, TNNT2, TPM1, DSG2, PRKAG2, TNNI3, ACTC1, RYR2, PKP2, KCNQ1, SCN5A, KCNH2, MYBPC3, MYH7, TTN, LMNA, LDLR, GLA, DSP, COL3A1 Specificity 10 % Genes 10 %
Short QT Syndrome Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 34 % Genes 10 %
LONG QT SYNDROME, JERVELL AND LANGE-NIELSEN SYNDROME (AUTOSOMAL RECESSIVE). By Laboratorio de Genetica Clinica SL in Spain. KCNQ1, KCNE1 Specificity 100 % Genes 10 %
LONG QT SYNDROME, ROMANO-WARD SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 80 % Genes 20 %
BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A , (...) View the complete list with 5 more genes Panel GTR000558286 complete gene list AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2 Specificity 32 % Genes 39 %
Long QT Syndrome , Deletions-Duplications (MLPA) KCNQ1,KCNH2,KCNE1,KCNE2 Genes. By Reference Laboratory Genetics in Spain. KCNE2, KCNQ1, KCNE1, KCNH2 Specificity 75 % Genes 15 %
Long QT syndrome 1. By Labor Dr. Wisplinghoff in Germany. KCNQ1 Specificity 100 % Genes 5 %
Jervell and Lange-Nielsen syndrome 1. By Labor Dr. Wisplinghoff in Germany. KCNQ1 Specificity 100 % Genes 5 %
Phosphorus Short QT Syndrome Panel. By Phosphorus Diagnostics LLC in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 34 % Genes 10 %
Jervell and Lange-Nielsen Syndrome: gene sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. KCNQ1, KCNE1 Specificity 100 % Genes 10 %
NUP155. By Fulgent Genetics Fulgent Genetics in United States. NUP155 Specificity 100 % Genes 5 %
TRUNCUS ARTERIOSUS COMMUNIS. By Laboratorio de Genetica Clinica SL in Spain. NKX2-6 Specificity 100 % Genes 5 %
NKX2-6. By Fulgent Genetics Fulgent Genetics in United States. NKX2-6 Specificity 100 % Genes 5 %
KCNE1. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNE1 Specificity 100 % Genes 5 %
KCNE1 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. KCNE1 Specificity 100 % Genes 5 %
Long QT syndrome 1, LQT5 (deletion/duplication analysis of KCNE1 gene). By CGC Genetics in Portugal. KCNE1 Specificity 100 % Genes 5 %
Long QT syndrome 5 (LQT5, sequence analysis of KCNE1 gene). By CGC Genetics in Portugal. KCNE1 Specificity 100 % Genes 5 %
Jervell and Lange-Nielsen syndrome type 2. By Centogene AG - the Rare Disease Company in Germany. KCNE1 Specificity 100 % Genes 5 %
Long QT Syndrome 5. By Clinical Genomics Maastricht University Medical Centre in Netherlands. KCNE1 Specificity 100 % Genes 5 %
Jervell and Lange-Nielsen syndrome 2. By Praxis fuer Humangenetik Wien in Austria. KCNE1 Specificity 100 % Genes 5 %
Jervell and Lange-Nielsen syndrome 2. By MedGene in Slovakia. KCNE1 Specificity 100 % Genes 5 %
Long QT syndrome type 5 and 6: KCNE1 and KCNE2 genes sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNE2, KCNE1 Specificity 100 % Genes 10 %
Long QT syndrome type 5: KCNE1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNE1 Specificity 100 % Genes 5 %
Long QT syndrome type V. By Bioarray in Spain. KCNE1 Specificity 100 % Genes 5 %
KCNE1. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNE1 Specificity 100 % Genes 5 %
KCNE1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNE1 Specificity 100 % Genes 5 %
Jervell and Lange-Nielsen syndrome (sequence analysis of KCNE1 gene). By CGC Genetics in Portugal. KCNE1 Specificity 100 % Genes 5 %
Long QT Syndrome and Jervell and Lange-Nielsen Syndrome via the KCNE1 Gene. By PreventionGenetics PreventionGenetics in United States. KCNE1 Specificity 100 % Genes 5 %
Long QT syndrome type 5. By Centogene AG - the Rare Disease Company in Germany. KCNE1 Specificity 100 % Genes 5 %
Single gene testing KCNE1. By CeGaT GmbH in Germany. KCNE1 Specificity 100 % Genes 5 %
Long QT Syndrome 5. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNE1 Specificity 100 % Genes 5 %
KCNE1 gene sequencing. By Health in Code in Spain. KCNE1 Specificity 100 % Genes 5 %
Long QT syndrome 5. By Praxis fuer Humangenetik Wien in Austria. KCNE1 Specificity 100 % Genes 5 %
Long QT syndrome 5. By MedGene in Slovakia. KCNE1 Specificity 100 % Genes 5 %
KCNE1. By Fulgent Genetics Fulgent Genetics in United States. KCNE1 Specificity 100 % Genes 5 %
Long QT syndrome type V. By Bioarray in Spain. KCNE1 Specificity 100 % Genes 5 %
KCNE1 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. KCNE1 Specificity 100 % Genes 5 %
KCNE1 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. KCNE1 Specificity 100 % Genes 5 %
Long QT Syndrome Type 5 , Sequencing KCNE1 Gene. By Reference Laboratory Genetics in Spain. KCNE1 Specificity 100 % Genes 5 %
Long QT syndrome 5. By Labor Dr. Wisplinghoff in Germany. KCNE1 Specificity 100 % Genes 5 %
Jervell and Lange-Nielsen syndrome 2. By Labor Dr. Wisplinghoff in Germany. KCNE1 Specificity 100 % Genes 5 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies. By Athena Diagnostics Inc in United States. BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A , (...) View the complete list with 64 more genes Panel GTR000559453 complete gene list BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ASPM, CACNB4, DYNC1H1, CASR, CACNA1A, SCN1A, CSTB, PHGDH, SLC2A1, PCDH19, CHRNA7, SLC6A8, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, AMT, GLDC, ALG9, SUCLA2, GATM, GAMT, ABAT, LIAS, SLC25A19, ADSL, ALPL Specificity 3 % Genes 10 %
Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...) View the complete list with 214 more genes Panel GTR000559466 complete gene list IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, CACNA2D1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, DYNC1H1, CASR, KCNJ11, CACNA1A, FKRP, NOTCH3, SCN1A, CSTB, DPYD, PLA2G6, PHGDH, CLN5, POMGNT1, PEX7, PPT1, FKTN, CLN8, CLN6, GPC3, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, TSC2, WDR62, SLC2A1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, FGFR3, SLC6A8, WWOX, CLN3, TPP1, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, SLC9A6, AMT, GLDC, GRN, ALG9, SLC25A22, CTSD, TUBA1A, SUCLA2, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, PANK2, SLC25A19, POLG, SHH, ADGRV1, HPRT1, HSD17B10, ATP6V0A2, CPT2, PAX6, ADSL, ALPL, UBE3A Specificity 1 % Genes 10 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy. By Athena Diagnostics Inc in United States. TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, NRXN1, PIGA, SCN8A, WDR45, GNAO1, SZT2 , (...) View the complete list with 47 more genes Panel GTR000559467 complete gene list TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, NRXN1, PIGA, SCN8A, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, HNRNPU, CACNA2D2, CACNA2D1, QARS, BRAT1, ALG13, GRIN2A, GABRG2, CHD2, PNPO, KCNT1, HCN1, GRIN2B, SLC35A2, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, KCNJ11, SCN1A, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, WWOX, SLC9A6, AMT, GLDC, ALG9, SLC25A22, STXBP1, LIAS, MECP2, SLC25A19, ADSL, UBE3A Specificity 2 % Genes 5 %
NGS Epilepsy/Seizure Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...) View the complete list with 125 more genes Panel GTR000525129 complete gene list ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, NECAP1, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, KANSL1, ST3GAL3, SZT2, DOCK7, SLC13A5, SNAP25, HNRNPU, MAGI2, CACNA2D1, MFSD8, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, PRRT2, DEPDC5, TBC1D24, SCN5A, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, PTCH1, TSC1, SYNGAP1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADSL, UBE3A, MTHFR Specificity 2 % Genes 10 %
Brugada Syndrome. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B Specificity 34 % Genes 15 %
Epilepsy/Seizure. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1 , (...) View the complete list with 78 more genes Panel GTR000552213 complete gene list PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1, TSEN54, FLNA, DCX, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, CASR, GCH1, CACNA1A, SCN1A, CSTB, PHGDH, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, CLN3, TPP1, QDPR, PTS, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, POLG, ADGRV1, MMACHC, ADSL, BTD, UBE3A, MTHFR Specificity 2 % Genes 5 %
Comprehensive Epilepsy Panel. By GeneDx in United States. ZEB2, ATP6AP2, SYN1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, DNAJC5, SRPX2, PRRT2, TBC1D24, SCARB2, MBD5, GRIN2A , (...) View the complete list with 50 more genes Panel GTR000520979 complete gene list ZEB2, ATP6AP2, SYN1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, DNAJC5, SRPX2, PRRT2, TBC1D24, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, GRIN2B, FOLR1, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, ATP1A2, CACNB4, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A Specificity 2 % Genes 5 %
STAT Epilepsy Panel. By GeneDx in United States. SPTAN1, SCN8A, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SCN1A, SLC2A1, PCDH19, MEF2C, CDKL5, ARX, ALDH7A1, STXBP1, MECP2, POLG Specificity 6 % Genes 5 %
Infantile Epilepsy Panel. By GeneDx in United States. ZEB2, ATP6AP2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, PNPO, KCNQ3 , (...) View the complete list with 33 more genes Panel GTR000520995 complete gene list ZEB2, ATP6AP2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, PNPO, KCNQ3, KCNQ2, GRIN2B, FOLR1, SCN2A, SCN1B, KCTD7, SCN1A, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A Specificity 2 % Genes 5 %
Brugada Syndrome Sequencing Panel. By GeneDx in United States. GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, SCN1B Specificity 43 % Genes 15 %
CustomNext: Neuro. By Ambry Genetics in United States. KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...) View the complete list with 176 more genes Panel GTR000560527 complete gene list KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Neurodevelopment-Expanded. By Ambry Genetics in United States. KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...) View the complete list with 176 more genes Panel GTR000560603 complete gene list KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
EpiFirst-Focal. By Ambry Genetics in United States. PRRT2, DEPDC5, GRIN2A, CHRNA4, CHRNA2, KCNT1, SCN1B, LGI1, CRH, CHRNB2, SCN1A Specificity 10 % Genes 5 %
EpilepsyNext. By Ambry Genetics in United States. ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...) View the complete list with 80 more genes Panel GTR000560538 complete gene list ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, GRN, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 1 % Genes 5 %
EpiRapid reflex EpilepsyNext. By Ambry Genetics in United States. ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...) View the complete list with 80 more genes Panel GTR000560540 complete gene list ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, GRN, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 1 % Genes 5 %
MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SPTAN1, SRPX2, GABRG2, SCN1B, LGI1, SLC25A22, POLG2, MECP2, POLG Specificity 12 % Genes 5 %
Brugada syndrome (NGS panel for 7 genes). By CGC Genetics in Portugal. GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, SCN1B Specificity 43 % Genes 15 %
Generalized epilepsy with febrile seizures plus type 1 (GEFS+, sequence analysis of SCN1B gene). By CGC Genetics in Portugal. SCN1B Specificity 100 % Genes 5 %
Epileptic encephalopathy (NGS panel for 67 genes). By CGC Genetics in Portugal. SRGAP2, MAPK10, ACY1, TBCE, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, SCN8A , (...) View the complete list with 47 more genes Panel GTR000525274 complete gene list SRGAP2, MAPK10, ACY1, TBCE, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, MAGI2, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, PNPO, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SCN2A, SCN1B, SLC19A3, SCN9A, SCN1A, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, WWOX, ALDH7A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, STXBP1, GAMT, MECP2, CPT2, ADSL, UBE3A, MTHFR Specificity 2 % Genes 5 %
Brugada Syndrome type 5. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. SCN1B Specificity 100 % Genes 5 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TNK2, NPRL2, ACY1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, SLC13A5, KCNB1, KCNA2, MFSD8, CTSF , (...) View the complete list with 62 more genes Panel GTR000522337 complete gene list TNK2, NPRL2, ACY1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, SLC13A5, KCNB1, KCNA2, MFSD8, CTSF, RELN, ARFGEF2, BCKDK, PIGO, PRRT2, DEPDC5, TBC1D24, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CHRNB2, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GAMT, MECP2, POLG, ADSL Specificity 2 % Genes 5 %
Brugada Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KCNE5, RANGRF, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 25 % Genes 20 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CARS2, KCNH1, SLC1A2, PLPBP, SON, RORB, HCN2, GRIN2D, FRRS1L, CAD, NACC1, TNK2, NPRL2, NPRL3, SCN10A, PIGG, ACY1, GNB1, TUBG1, IER3IP1 , (...) View the complete list with 133 more genes Panel GTR000558846 complete gene list CARS2, KCNH1, SLC1A2, PLPBP, SON, RORB, HCN2, GRIN2D, FRRS1L, CAD, NACC1, TNK2, NPRL2, NPRL3, SCN10A, PIGG, ACY1, GNB1, TUBG1, IER3IP1, SMARCA2, AARS, TUBB2A, MTOR, NEDD4L, CLCN2, NECAP1, GFAP, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, HNRNPU, MFSD8, CTSF, TUBB2B, SRPX2, TUBA8, RELN, QARS, DCX, ARFGEF2, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, CACNA1A, SCN1A, CSTB, CLN5, SLC17A5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, TUBA1A, STXBP1, GAMT, MECP2, POLG, TUBB3, ADSL, UBE3A Specificity 1 % Genes 5 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...) View the complete list with 202 more genes Panel GTR000561534 complete gene list DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3, PIGP, PPP2R1A, PIGQ, GABRB1, GABBR2, GAL, CLTC, CARS2, KCNH1, PLPBP, RORB, HCN2, GRIN2D, FRRS1L, CAD, NPRL2, NPRL3, NGLY1, GPHN, SLC12A5, GLRA1, DDX3X, CERS1, PIGG, PRDM8, COQ4, FGF12, ARV1, HIVEP2, UBA5, MDH2, KCNH5, C12orf57, NTRK2, PACS1, RANBP2, TPK1, IER3IP1, SATB2, DNMT3A, NAGA, MTOR, NEDD4L, NECAP1, CLCN4, ZDHHC9, ARID1B, EHMT1, DIAPH1, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, CACNA2D2, RBFOX1, MFSD8, DNAJC5, SRPX2, FLNA, RELN, QARS, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, KCNA1, CASR, SGCE, NF1, CACNA1A, SCN1A, CSTB, CLN5, SLC35A3, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, CBL, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, FARS2, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, ABAT, DHDDS, LIAS, MECP2, POLG, ADSL, PTEN, UBE3A Specificity 1 % Genes 10 %
Neurogenetic Disorders - panels. By MGZ Medical Genetics Center in Germany. PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...) View the complete list with 577 more genes Panel GTR000552437 complete gene list PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2, TRMT5, PARS2, MRPS7, MRPL44, NDUFB11, COQ7, IARS2, GTPBP3, COX8A, ARHGEF15, FLAD1, ISCA2, LYRM7, ARSI, USP8, WDR48, ZFR, NDUFB9, ATP2B4, CARS2, CAD, LARS, ATP5F1A, NPRL3, CACNA1B, EXOSC8, CLP1, AIMP1, UQCRC2, TALDO1, GPHN, PDE8B, SLC52A3, LMNB1, DGAT2, STUB1, SLC6A19, RNF216, RNASEH1, PTRH2, PIK3R5, NOL3, GRID2, SLC52A2, CACNA1G, ATP8A2, RARS, AAAS, ACY1, SLC30A10, ADCY5, GNAL, ECHS1, KCTD17, HPCA, ANO3, UBA5, CLPB, SERAC1, PDGFB, SLC1A4, PYCR2, SEPSECS, AMPD2, XRCC4, KCNH5, GRIK2, ARL6IP1, IBA57, ALG14, LRP4, PREPL, DNAJC3, HEPACAM, MICU1, SLC25A46, EPG5, PRKRA, RANBP2, XK, COQ8B, VPS35, EIF2AK3, ABCA1, APOB, HADH, SLC6A3, MR1, EARS2, FBXO7, TPK1, PRNP, CSF1R, SCO1, COX10, MARS2, DCAF17, COASY, CP, FTL, NBAS, GJA1, CCT5, RNASET2, ACTG2, FDX2, STAMBP, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, CPT1C, MAG, REEP2, ERLIN1, MYBPC1, GMPPB, TOR1AIP1, HNRNPDL, DNA2, FBXL4, NKX2-1, TBK1, LYST, GAN, TFG, MARS, TUBB2A, EXOSC3, CLCN2, CLCN4, SLC16A2, TAF1, LAMP2, HCFC1, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CHD8, CACNA1C, FUCA1, NARS2, PEX6, LARS2, SLC19A2, SOX10, DNMT1, NLRP3, PNPT1, POLR1C, CLPP, VPS13A, GFAP, TREX1, KDM5C, ARHGEF9, RNASEH2B, RNASEH2C, RNASEH2A, KCNJ10, SAMHD1, PNKP, TSEN54, RELN, QARS, COL4A1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, ATP1A2, COL6A3, CHKB, DPM2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, ANO10, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SYNE1, BICD2, MTM1, UBQLN2, TARDBP, CHMP2B, SETX, RYR1, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, CASR, SNCA, SGCE, LRRK2, GCH1, THAP1, TOR1A, CACNA1A, PPP2R2B, NOTCH3, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, DNM2, GDAP1, RAPSN, PLA2G6, PHGDH, CIZ1, SLC6A5, GLRA1, GLRB, NOP56, COL4A2, FAM126A, RETREG1, PSAT1, SNX14, APOPT1, CHCHD10, PRDM8, POLR3B, POLR3A, TRNT1, PMPCA, RUBCN, COQ4, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, TH, SACS, PEX7, PPT1, PEX2, MTTP, DOK7, CLN8, CLN6, CHRNE, SDHD, MRE11, ATM, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, GBA, ARX, ASPA, ARSA, MGME1, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PNKD, WWOX, KIF21A, CLN3, TPP1, SLC25A38, ASL, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, SLC25A15, IVD, GALC, DLAT, SUCLG1, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, ACOX1, ALDH7A1, PHYH, HEXB, ALDH3A2, HEXA, ABHD5, ABCD1, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, OTC, PUS1, SQSTM1, ETHE1, TYMP, GAD1, SCO2, GLDC, PINK1, PCCA, PCCB, PARK7, SPG7, COQ2, NDUFA13, GRN, ALG2, PDP1, GFM1, SLC25A22, TK2, POLG2, DNAJC19, REEP1, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, STXBP1, SDHB, COX4I2, SPR, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, SLC13A5, SNAP25, SIK1, EEF1A2, SPATA5, HNRNPU, ATP13A2, GAMT, SLC25A12, TMEM126A, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, ALDH18A1, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, MECP2, VCP, OPA3, PANK2, SDHC, MFN2, ALAS2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, ELOVL4, PSAP, WFS1, TRMU, OPA1, CPT2, CPS1, HSD17B4, AMACR, SDHAF2, TUBB3, PSEN1, APP, PRKCG, MMACHC, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, ATP5F1E, UQCRB, ARG1, UQCRQ, PC, YARS2, ACADVL, AGL, ACADS, ACADM, ACAD9, ABHD12, AARS2, UBE3A, TTR, MTHFR Specificity 1 % Genes 5 %
Epilepsy and Mitochondrial Encephalopathy. By MGZ Medical Genetics Center in Germany. PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1 , (...) View the complete list with 166 more genes Panel GTR000521058 complete gene list PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1, SCO1, MARS2, DCAF17, CP, C19orf12, HNRNPDL, FBXL4, TUBB2A, CLCN4, NEU1, SLC19A2, PNPT1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, QARS, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, DPM2, SYNE1, FA2H, SLC33A1, SGCE, SCN1A, CSTB, PHGDH, CLN5, PPT1, CLN6, SDHD, SYNGAP1, SLC2A1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, CLN3, TPP1, SLC25A20, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, NDUFA2, MPV17, ALDH7A1, HEXB, HEXA, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, TRIT1, SCO2, GLDC, SPG7, PDP1, GFM1, SLC25A22, TK2, MRPS16, TSFM, TUFM, SLC25A3, RARS2, MRPS22, SUCLA2, STXBP1, SDHB, GAMT, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, NDUFA9, NDUFB3, NDUFA12, PDSS1, PDSS2, MTO1, MECP2, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, WFS1, TRMU, OPA1, SDHAF2, UQCRB, UQCRQ, PC, YARS2, UBE3A Specificity 1 % Genes 5 %
Brain Malformations / Neuronal Migration Disorders. By MGZ Medical Genetics Center in Germany. NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...) View the complete list with 246 more genes Panel GTR000521067 complete gene list NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1, CCND2, HEPACAM, TBC1D7, KPTN, OCLN, ADA2, TDGF1, XK, AKT1, AKT3, PIK3R2, GNAQ, DISP1, PIK3CA, EOMES, KIF7, DCAF17, CP, FTL, PGK1, ADAR, TUBB4A, C19orf12, SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, MYBPC1, HNRNPDL, KDM6A, GPSM2, GLI3, RNF135, EZH2, NFIX, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, TUBB2A, EXOSC3, THOC2, CLCN4, ZMYM3, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NEU1, NLGN3, NLGN4X, ARID1B, CHD8, AP1S2, EHMT1, MED12, MID1, PTCHD1, HTRA1, VPS13A, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, DYRK1A, NRXN1, SCN8A, WDR45, NEXMIF, EEF1A2, SETD2, ATP13A2, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, QARS, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ASPM, CACNB4, FA2H, L1CAM, CASR, FGF8, SGCE, NOTCH3, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, EIF2B5, CLN5, MLC1, PPT1, DOK7, CLN6, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, WDR62, SLC2A1, PORCN, PCDH19, MEF2C, IDS, FOXG1, CHD7, CDKL5, ELP1, ARX, ASPA, FGFR3, CLN3, TPP1, CYP27A1, GALC, SGSH, HGSNAT, ALDH7A1, SLC9A6, ACSL4, MAOA, GK, GLDC, SLC25A22, TUBA1A, STXBP1, GAMT, MECP2, FH, PANK2, HPRT1, HSD17B10, TUBB3, APP, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Epilepsy. By MGZ Medical Genetics Center in Germany. PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57 , (...) View the complete list with 192 more genes Panel GTR000521111 complete gene list PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1, SCO1, MARS2, DCAF17, CP, FTL, TUBB4A, C19orf12, MYBPC1, GMPPB, HNRNPDL, FBXL4, TUBB2A, CLCN4, NEU1, CHD8, SLC19A2, PNPT1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, ATP13A2, QARS, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, DPM2, CACNB4, SYNE1, FA2H, SLC33A1, CASR, SGCE, CACNA1A, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, CLN5, PPT1, CLN6, SDHD, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, CLN3, TPP1, SLC25A20, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, NDUFA2, MPV17, ALDH7A1, HEXB, HEXA, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, GLDC, SPG7, PDP1, GFM1, SLC25A22, TK2, MRPS16, TSFM, TUFM, SLC25A3, RARS2, MRPS22, SUCLA2, STXBP1, SDHB, GAMT, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, NDUFA9, NDUFB3, NDUFA12, PDSS1, PDSS2, MTO1, MECP2, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, WFS1, TRMU, OPA1, AMACR, SDHAF2, UQCRB, UQCRQ, PC, YARS2, UBE3A Specificity 1 % Genes 5 %
Epileptic encephalopathy panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. SRGAP2, MAPK10, TBCE, ZEB2, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, MAGI2, GRIN2A, PNPO, KCNQ2, KCNT1, GRIN2B, SCN2A, SCN1B, SLC19A3, SCN9A, SCN1A , (...) View the complete list with 12 more genes Panel GTR000509402 complete gene list SRGAP2, MAPK10, TBCE, ZEB2, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, MAGI2, GRIN2A, PNPO, KCNQ2, KCNT1, GRIN2B, SCN2A, SCN1B, SLC19A3, SCN9A, SCN1A, SYNGAP1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, ALDH7A1, SLC25A22, STXBP1, MECP2, UBE3A Specificity 4 % Genes 5 %
Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. CLCN2, TBC1D24, GABRG2, GABRD, SCN2A, SCN1B, SCN9A, SCN1A, PCDH19, ADGRV1 Specificity 10 % Genes 5 %
Generalized epilepsy with febrile seizures plus type 1. By Centogene AG - the Rare Disease Company in Germany. SCN1B Specificity 100 % Genes 5 %
Brugada syndrome panel. By Centogene AG - the Rare Disease Company in Germany. GPD1L, CACNB2, KCNE3, SCN3B, SLMAP, CACNA1C, SCN5A, HCN4, SCN1B Specificity 34 % Genes 15 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2 Specificity 1 % Genes 10 %
Idiopathic Generalized and Focal Epilepsy Panel. By CeGaT GmbH in Germany. NIPA2, UBR5, RBFOX3, CNTN2, CLCN2, SCN8A, RBFOX1, PRRT2, DEPDC5, TBC1D24, KCNMA1, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ3, KCNQ2, KCNT1, GABRD , (...) View the complete list with 20 more genes Panel GTR000522397 complete gene list NIPA2, UBR5, RBFOX3, CNTN2, CLCN2, SCN8A, RBFOX1, PRRT2, DEPDC5, TBC1D24, KCNMA1, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ3, KCNQ2, KCNT1, GABRD, STX1B, SCN2A, SCN1B, SCN9A, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, SLC1A3, CACNB4, KCNA1, CASR, CACNA1A, SCN1A, SLC2A1, ALDH7A1, ME2, AMACR Specificity 3 % Genes 5 %
Single gene testing SCN1B. By CeGaT GmbH in Germany. SCN1B Specificity 100 % Genes 5 %
Brugada Syndrome 5, SCN1B. By GGA - Galil Genetic Analysis in Israel. SCN1B Specificity 100 % Genes 5 %
Atrial fibrillation, familial, 13; SCN1B. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN1B Specificity 100 % Genes 5 %
Brugada Syndrome 5, Cardiac conduction defect, nonspecific, SCN1B. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN1B Specificity 100 % Genes 5 %
Brugada syndrome 5. By Praxis fuer Humangenetik Wien in Austria. SCN1B Specificity 100 % Genes 5 %
Brugada syndrome 5. By MedGene in Slovakia. SCN1B Specificity 100 % Genes 5 %
Epilepsy, generalized with febrile seizures plus (GEFS+) 1. By MedGene in Slovakia. SCN1B Specificity 100 % Genes 5 %
Invitae Epilepsy Panel. By Invitae in United States. ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4 , (...) View the complete list with 105 more genes Panel GTR000551760 complete gene list ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, GNAO1, SZT2, NEXMIF, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, SPATA5, HNRNPU, CACNA2D2, MFSD8, DNAJC5, QARS, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, SCN9A, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, ATP1A3, ATP1A2, SGCE, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A Specificity 1 % Genes 5 %
DRAVET, SYNDROME & MIOCLONIC EPILEPSY. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GABRG2, GABRA1, EPM2A, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, EFHC1, CACNB4, SCN1A, PCDH19, CHRNA7 Specificity 8 % Genes 5 %
Brugada Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, HCN4, SCN1B Specificity 38 % Genes 15 %
Epilepsy and Seizure Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...) View the complete list with 90 more genes Panel GTR000512416 complete gene list ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, EMX2, DCX, CENPJ, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, CYP27A1, NDUFA1, ALDH7A1, ALDH5A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADGRV1, ADSL, UBE3A, MTHFR Specificity 1 % Genes 5 %
Essential Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MAPK10, ACY1, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2 , (...) View the complete list with 50 more genes Panel GTR000531690 complete gene list MAPK10, ACY1, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, KCNB1, SIK1, DNM1, KCNA2, PRRT2, DEPDC5, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC35A2, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, GABRB3, LGI1, CHRNB2, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, ALDH7A1, SLC9A6, SLC25A22, STXBP1, GAMT, MECP2, POLG, ADSL, UBE3A Specificity 2 % Genes 5 %
Brugada Syndrome Panel. By Blueprint Genetics in Finland. CACNB2, SCN3B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B, KCNH2, CAV3 Specificity 34 % Genes 15 %
Epileptic Encephalopathy Panel. By Blueprint Genetics in Finland. TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS , (...) View the complete list with 108 more genes Panel GTR000552752 complete gene list TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS, HEPACAM, SCO1, ADAR, NECAP1, CLCN4, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, HNRNPU, FLNA, DCX, BRAT1, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, GABRB3, KIF1A, CACNA1A, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, MTFMT, SLC6A8, FARS2, WWOX, COX6B1, LRPPRC, HIBCH, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, ALDH7A1, SLC9A6, D2HGDH, ETHE1, AMT, GLDC, SLC25A22, STXBP1, GAMT, ABAT, NUBPL, TTC19, DNM1L, MECP2, NDUFS4, POLG, CPT2, ADSL, UBE3A, MTHFR, HTT Specificity 1 % Genes 5 %
Comprehensive Epilepsy Panel. By Blueprint Genetics in Finland. SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...) View the complete list with 263 more genes Panel GTR000552774 complete gene list SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT, SLC12A5, GLRB, DHFR, FAM126A, CERS1, APOPT1, POLR3B, POLR3A, LMNB1, FGF12, RNF216, RARS, ECHS1, GNB1, UBA5, TBCD, SERAC1, TBCE, PYCR2, CC2D1A, GRIK2, SLC25A1, IBA57, ASNS, HEPACAM, DDC, EARS2, SLC46A1, CSF1R, SCO1, MARS2, CTC1, RNASET2, PGK1, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, TUBB4A, HACE1, MTOR, CLCN2, NECAP1, CLCN4, TAF1, UBE2A, NEU1, MED12, SOX10, HTRA1, VPS13A, GFAP, TREX1, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, ARHGEF9, GRIA3, PHF6, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, PIGN, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, HNRNPU, MAGI2, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, RELN, DCX, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, CACNB4, KCNA1, FA2H, KIF1A, CASR, GCH1, CACNA1A, NOTCH3, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, DPYD, EIF2B5, CLN5, SUMF1, MLC1, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PLP1, PCDH19, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, ARX, ASPA, ARSA, AGA, MTFMT, SLC6A8, FARS2, WWOX, CLN3, TPP1, CYP27A1, COX6B1, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, GALC, HIBCH, NDUFAF5, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, COX15, QDPR, PTS, ALDH7A1, ALDH3A2, ALDH5A1, SUOX, ABCD1, SLC9A6, AIFM1, D2HGDH, ETHE1, AMT, GLDC, GRN, GFM1, SLC25A22, CTSD, DARS2, STXBP1, GAMT, ABAT, NUBPL, TTC19, NFU1, DNM1L, MECP2, FH, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, HSD17B10, GNE, PRODH, GLB1, PSAP, CPT2, AMACR, ADSL, BTD, ARG1, UBE3A, MTHFR, HTT Specificity 1 % Genes 5 %
Idiopathic Generalized and Focal Epilepsy Panel. By Blueprint Genetics in Finland. MTOR, CLCN2, SCN8A, RELN, PRRT2, DEPDC5, TBC1D24, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, SLC6A1, STX1B, SCN2A, SCN1B , (...) View the complete list with 14 more genes Panel GTR000552780 complete gene list MTOR, CLCN2, SCN8A, RELN, PRRT2, DEPDC5, TBC1D24, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, SLC6A1, STX1B, SCN2A, SCN1B, SCN9A, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, CACNB4, KCNA1, CASR, SCN1A, SLC2A1, ALDH7A1, POLG, AMACR Specificity 3 % Genes 5 %
SCN1B Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SCN1B Specificity 100 % Genes 5 %
SCN1B Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN1B Specificity 100 % Genes 5 %
BRUGADA SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B Specificity 34 % Genes 15 %
Brugada Syndrome, Panel Massive Sequencing (NGS) 8 Genes. By Reference Laboratory Genetics in Spain. GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, HCN4, SCN1B Specificity 38 % Genes 15 %
Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. GABRG2, GABRD, SCN1B, SCN9A, SCN1A Specificity 20 % Genes 5 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes. By Reference Laboratory Genetics in Spain. CHRNA3, CHRNA5, GRIN2D, GLRA1, CHRNG, CACNA1D, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, TBC1D24, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ2, GABRD , (...) View the complete list with 24 more genes Panel GTR000559908 complete gene list CHRNA3, CHRNA5, GRIN2D, GLRA1, CHRNG, CACNA1D, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, TBC1D24, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ2, GABRD, SCN2A, SCN1B, ST3GAL5, SCN9A, CHRNB2, CHRNB1, CHRND, CHRNA1, RYR1, CACNA1S, ATP2A1, CACNA1A, SCN4A, CLCN1, SCN1A, CHRNE, PCDH19, DMPK, CDKL5, ARX, GBE1, SLC25A22, STXBP1, GAA Specificity 3 % Genes 5 %
Childhood Epilepsy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. ZEB2, SYN1, CNTNAP2, PNKP, NRXN1, WDR45, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1 , (...) View the complete list with 27 more genes Panel GTR000552155 complete gene list ZEB2, SYN1, CNTNAP2, PNKP, NRXN1, WDR45, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNB4, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, SLC2A1, MEF2C, FOXG1, CDKL5, CLN3, TPP1, SLC9A6, CTSD, GATM, GAMT, MECP2, POLG, ADSL, UBE3A Specificity 3 % Genes 5 %
Infantile Epilepsy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PCBD1, ZEB2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, PNPO, KCNQ3, KCNQ2 , (...) View the complete list with 40 more genes Panel GTR000552301 complete gene list PCBD1, ZEB2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCTD7, GCH1, SCN1A, PHGDH, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, CLN3, TPP1, QDPR, PTS, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, SLC25A22, CTSD, STXBP1, GAMT, LIAS, MECP2, POLG, MMACHC, ADSL, BTD, UBE3A, MTHFR Specificity 2 % Genes 5 %
Brugada Syndrome Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. RANGRF, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 27 % Genes 20 %
SCN1B. By Institute for Human Genetics University Clinic Freiburg in Germany. SCN1B Specificity 100 % Genes 5 %
Epilepsy Panel - Comprehensive. By Molecular Genetics Laboratory London Health Sciences Centre in Canada. PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5 , (...) View the complete list with 49 more genes Panel GTR000530238 complete gene list PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, LMNB2, GRIN2A, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, KCTD7, NHLRC1, GOSR2, ATP1A3, ATP1A2, KCNJ2, KCNJ11, SCN1A, CSTB, PHGDH, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, MOCS1, ALDH7A1, SUOX, SLC9A6, AMT, GLDC, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 3 % Genes 10 %
Childhood-Onset Epilepsy Panel. By GeneDx in United States. ZEB2, SYN1, CNTNAP2, TCF4, PNKP, NRXN1, KANSL1, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B , (...) View the complete list with 30 more genes Panel GTR000520996 complete gene list ZEB2, SYN1, CNTNAP2, TCF4, PNKP, NRXN1, KANSL1, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNB4, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, CLN3, TPP1, SLC9A6, CTSD, GATM, GAMT, MECP2, POLG, ADSL, UBE3A Specificity 2 % Genes 5 %
EpiFirst-Fever. By Ambry Genetics in United States. SCN8A, PRRT2, GABRG2, GABRA1, CHD2, HCN1, STX1B, SCN2A, SCN1B, GABRB3, SCN1A, PCDH19, STXBP1 Specificity 8 % Genes 5 %
SCN1B. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SCN1B Specificity 100 % Genes 5 %
SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. GABRG2, GABRD, SCN1B, SCN9A, SCN1A Specificity 20 % Genes 5 %
CHOP Epilepsy Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. PIGT, SLC12A5, HDAC4, CNKSR2, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, KCNJ10, PNKP, SPTAN1, PLCB1, GRIN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...) View the complete list with 69 more genes Panel GTR000553482 complete gene list PIGT, SLC12A5, HDAC4, CNKSR2, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, KCNJ10, PNKP, SPTAN1, PLCB1, GRIN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, HNRNPU, MFSD8, RELN, QARS, PIGO, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNQ3, KCNQ2, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, KCNA1, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, WWOX, CLN3, TPP1, ALDH7A1, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 2 % Genes 5 %
Brugada Syndrome via the SCN1B Gene. By PreventionGenetics PreventionGenetics in United States. SCN1B Specificity 100 % Genes 5 %
Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene. By PreventionGenetics PreventionGenetics in United States. SCN1B Specificity 100 % Genes 5 %
SCN1B-Related Generalized Epilepsy with Febrile Seizures Plus. By MGZ Medical Genetics Center in Germany. SCN1B Specificity 100 % Genes 5 %
Brugada Syndrome 5. By MGZ Medical Genetics Center in Germany. SCN1B Specificity 100 % Genes 5 %
Epileptic Encephalopathy. By MGZ Medical Genetics Center in Germany. PPT2, ARHGEF15, CLP1, GPHN, KCNH5, IBA57, HADH, DCAF17, CP, FTL, C19orf12, HNRNPDL, TUBB2A, CLCN4, NEU1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1 , (...) View the complete list with 69 more genes Panel GTR000521030 complete gene list PPT2, ARHGEF15, CLP1, GPHN, KCNH5, IBA57, HADH, DCAF17, CP, FTL, C19orf12, HNRNPDL, TUBB2A, CLCN4, NEU1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, ATP13A2, QARS, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, DPM2, SYNE1, FA2H, SGCE, SCN1A, CSTB, PLA2G6, PHGDH, CLN5, PPT1, CLN6, SYNGAP1, SLC2A1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, HEXB, HEXA, GLDC, SLC25A22, STXBP1, GAMT, MECP2, PANK2, POLG, AMACR, UBE3A Specificity 2 % Genes 5 %
Febrile Seizures. By MGZ Medical Genetics Center in Germany. GABRA1, HCN1, GABRD, STX1B, SCN2A, SCN1B, SCN1A, PCDH19 Specificity 13 % Genes 5 %
Brugada syndrome type 5. By Centogene AG - the Rare Disease Company in Germany. SCN1B Specificity 100 % Genes 5 %
Epileptic Encephalopathy Panel. By CeGaT GmbH in Germany. GPHN, HDAC4, ACY1, ADAR, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1 , (...) View the complete list with 57 more genes Panel GTR000522362 complete gene list GPHN, HDAC4, ACY1, ADAR, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, KCNB1, DNM1, KCNA2, HNRNPU, FLNA, DCX, BRAT1, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, PNPO, KCNQ2, KCNT1, GRIN2B, FOLR1, SLC35A2, SCN2A, SCN1B, ST3GAL5, SLC19A3, GABRB3, CACNA1A, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, MOCS1, MOCS2, ALDH7A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, STXBP1, GAMT, MECP2, CPT2, ADSL, UBE3A, MTHFR Specificity 2 % Genes 5 %
Brugada Syndrome Panel. By CeGaT GmbH in Germany. SCN10A, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 24 % Genes 15 %
Generalized epilepsy with febrile seizures plus. By Laboratory of Human Genetics GENOMED Health Care Center in Poland. GABRG2, GABRD, SCN2A, SCN1B, SCN9A, SCN1A Specificity 17 % Genes 5 %
Brugada Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B, KCND3 Specificity 37 % Genes 20 %
Epilepsy. By Asper Biogene Asper Biogene LLC in Estonia. SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9 , (...) View the complete list with 104 more genes Panel GTR000551668 complete gene list SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9, SYP, IQSEC2, ATRX, SERPINI1, TCF4, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, SRPX2, FLNA, RELN, DCX, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, KCNA1, DYNC1H1, KIF1A, CACNA1A, SCN1A, CSTB, SLC35A3, TSC1, SYNGAP1, TSC2, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, WWOX, MOCS1, MOCS2, ALDH7A1, SLC9A6, ALG3, SLC25A22, STXBP1, GAMT, MECP2, POLG, TUBB3, ADSL, GATM, MCCC1, UBE3A Specificity 1 % Genes 5 %
SCN1B gene sequencing. By Health in Code in Spain. SCN1B Specificity 100 % Genes 5 %
Test for Brugada Syndrome 5. By Secugen SL in Spain. SCN1B Specificity 100 % Genes 5 %
Epilepsy, generalized with febrile seizures plus (GEFS+) 1. By Praxis fuer Humangenetik Wien in Austria. SCN1B Specificity 100 % Genes 5 %
Epilepsy with febrile seizures plus, Generalized: SCN1B gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SCN1B Specificity 100 % Genes 5 %
BRUGADA SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNE5, RANGRF, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 22 % Genes 15 %
EPILEPSY HEREDITARY PANEL. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. JRK, CLCN2, SCN8A, SRPX2, PRRT2, DEPDC5, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3 , (...) View the complete list with 17 more genes Panel GTR000531479 complete gene list JRK, CLCN2, SCN8A, SRPX2, PRRT2, DEPDC5, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, CACNB4, KCNA1, CACNA1A, SCN1A, MT-ATP6, SLC2A1, PCDH19, CDKL5, ARX, ALDH7A1, STXBP1 Specificity 3 % Genes 5 %
Neurology: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...) View the complete list with 144 more genes Panel GTR000512608 complete gene list MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, ATR, PCNT, CDK5RAP2, GLI2, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, EHMT1, LAMC3, ACTG1, ACTB, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, ATRX, KIF1BP, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, DCX, CENPJ, ARFGEF2, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, LARGE1, CACNB4, POMT1, POMT2, VRK1, FGF8, FKRP, AHI1, SCN1A, CSTB, TMEM216, CLN5, POMGNT1, PPT1, FKTN, CLN8, CLN6, PTCH1, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, DHCR7, CDKL5, ARX, CLN3, TPP1, MKS1, ALDH7A1, SLC9A6, SLC25A22, CTSD, RARS2, TUBA1A, STXBP1, GATM, GAMT, LIAS, MECP2, SLC25A19, POLG, SHH, CEP290, ADGRV1, NPHP1, TMEM67, CC2D2A, TUBB3, ADSL, UBE3A Specificity 1 % Genes 5 %
Brugada Syndrome: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, HCN4, SCN1B Specificity 38 % Genes 15 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...) View the complete list with 87 more genes Panel GTR000558825 complete gene list ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, EMX2, DCX, CENPJ, BCKDK, TBC1D24, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1B, ST3GAL5, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADGRV1, ADSL, UBE3A, MTHFR Specificity 1 % Genes 5 %
Brugada Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, HCN4, SCN1B Specificity 38 % Genes 15 %
SCN1B. By Fulgent Genetics Fulgent Genetics in United States. SCN1B Specificity 100 % Genes 5 %
Idiopathic Generalized Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1 , (...) View the complete list with 69 more genes Panel GTR000531698 complete gene list NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1, CNTNAP2, TCF4, KCNJ10, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, DNAJC5, SRPX2, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, GABRD, STX1B, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, CACNB4, DYNC1H1, CASR, CACNA1A, SCN1A, CSTB, GPC3, SMC1A, SYNGAP1, SLC2A1, PLP1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, ALDH7A1, SLC9A6, STXBP1, MECP2, ME2, HSD17B10, ADSL, UBE3A Specificity 2 % Genes 5 %
Early-Onset Epileptic Encephalopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP , (...) View the complete list with 113 more genes Panel GTR000531702 complete gene list RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NR2F1, SLC13A5, KCNB1, SIK1, DNM1, EEF1A2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, MFSD8, DNAJC5, CTSF, SRPX2, QARS, ARFGEF2, BCKDK, PIGO, PRRT2, DEPDC5, TBC1D24, ALG13, SCN5A, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, CACNB4, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, LIAS, MECP2, POLG, ADGRV1, ADSL, AUH, UBE3A Specificity 2 % Genes 10 %
Brugada syndrome type V. By Bioarray in Spain. SCN1B Specificity 100 % Genes 5 %
Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type I. By Bioarray in Spain. SCN1B Specificity 100 % Genes 5 %
Brugada Syndrome Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, SCN5A, HCN4, SCN1B, KCND3 Specificity 28 % Genes 15 %
Brugada Syndrome Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, KCNJ8, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 31 % Genes 20 %
Generalized Epilepsy with Febrile Seizures Plus, Sequencing SCN1B Gene. By Reference Laboratory Genetics in Spain. SCN1B Specificity 100 % Genes 5 %
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes. By Reference Laboratory Genetics in Spain. CLCN2, SCN8A, SRPX2, PRRT2, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3, LGI1, EFHC1 , (...) View the complete list with 14 more genes Panel GTR000559546 complete gene list CLCN2, SCN8A, SRPX2, PRRT2, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, CACNB4, KCNA1, CACNA1A, SCN1A, SLC2A1, PCDH19, CDKL5, ARX, ALDH7A1, STXBP1 Specificity 3 % Genes 5 %
Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes. By Reference Laboratory Genetics in Spain. GABRG2, GABRA1, EPM2A, SCN2A, SCN1B, SCN9A, NHLRC1, EFHC1, CACNB4, SCN1A, PCDH19 Specificity 10 % Genes 5 %
Maturity-Onset Diabetes of the Young. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, IER3IP1, CP, FOXP3, HNF4A, PDX1, INS, KCNJ11, ABCC8, CISD2 , (...) View the complete list with 5 more genes Panel GTR000552325 complete gene list EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, IER3IP1, CP, FOXP3, HNF4A, PDX1, INS, KCNJ11, ABCC8, CISD2, GCK, WFS1, HNF1B, NEUROD1, HNF1A Specificity 4 % Genes 5 %
GATA6 sequencing. By Genetic Services Laboratory University of Chicago in United States. GATA6 Specificity 100 % Genes 5 %
Atrial septal defect 9 (sequence analysis of GATA6 gene). By CGC Genetics in Portugal. GATA6 Specificity 100 % Genes 5 %
Atrial septal defect type 9. By Centogene AG - the Rare Disease Company in Germany. GATA6 Specificity 100 % Genes 5 %
Single gene testing GATA6. By CeGaT GmbH in Germany. GATA6 Specificity 100 % Genes 5 %
Endocrine Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11 , (...) View the complete list with 37 more genes Panel GTR000558824 complete gene list GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, HADH, IER3IP1, NR5A1, ZMPSTE24, POR, FOXP3, BSCL2, HNF4A, PDX1, INS, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, KCNJ11, LHCGR, FGFR1, GNRH1, NR0B1, LMNA, ABCC8, CHD7, CYP17A1, CISD2, CAVIN1, GCK, WFS1, HNF1B, PPARG, NEUROD1, HNF1A Specificity 2 % Genes 5 %
Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes. By Reference Laboratory Genetics in Spain. EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, RFX6, FOXP3, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, WFS1, HNF1B, NEUROD1 Specificity 7 % Genes 5 %
GATA6 deletion/duplication analysis. By Genetic Services Laboratory University of Chicago in United States. GATA6 Specificity 100 % Genes 5 %
Diabetes mellitus permanent neonatal (NGS panel for 13 genes). By CGC Genetics in Portugal. GATA6, PTF1A, GLIS3, RFX6, IER3IP1, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, HNF1B, PAX6 Specificity 8 % Genes 5 %
Pancreatic agenesis and congenital heart defects. By Centogene AG - the Rare Disease Company in Germany. GATA6 Specificity 100 % Genes 5 %
Tetralogy of Fallot. By Centogene AG - the Rare Disease Company in Germany. GATA6 Specificity 100 % Genes 5 %
Atrioventricular septal defect type 5. By Centogene AG - the Rare Disease Company in Germany. GATA6 Specificity 100 % Genes 5 %
Maturity-onset diabetes of the young MODY. By Health in Code in Spain. TBC1D4, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, SLC2A2, IER3IP1, FOXP3, HNF4A, PDX1, INS, KCNJ11, CEL, GCK, WFS1 , (...) View the complete list with 3 more genes Panel GTR000530655 complete gene list TBC1D4, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, SLC2A2, IER3IP1, FOXP3, HNF4A, PDX1, INS, KCNJ11, CEL, GCK, WFS1, HNF1B, NEUROD1, HNF1A Specificity 5 % Genes 5 %
Dyslipidemias / Early atherosclerosis. By Health in Code in Spain. CH25H, TRIB1, SLC25A40, PPARA, LPA, SLC22A8, CYP3A5, LRP6, INSIG2, CYP3A4, SAR1B, MYLIP, SLCO1B1, PLTP, LIPC, APOC3, AGPAT2, PLIN1, CIDEC, TBC1D4 , (...) View the complete list with 64 more genes Panel GTR000530656 complete gene list CH25H, TRIB1, SLC25A40, PPARA, LPA, SLC22A8, CYP3A5, LRP6, INSIG2, CYP3A4, SAR1B, MYLIP, SLCO1B1, PLTP, LIPC, APOC3, AGPAT2, PLIN1, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, ABCA1, LCAT, ABCG1, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, SCARB1, CETP, NPC1L1, IER3IP1, CYP2D6, ABCG8, ABCG5, ZMPSTE24, AMPD1, CAV1, ABCB1, FOXP3, RYR1, BSCL2, HNF4A, PDX1, INS, KCNJ11, CEL, APOE, LMNA, MTTP, LIPA, LEP, LDLR, PYGM, COQ2, MEF2A, PNPLA2, CAVIN1, GPD1, GCK, PCDH15, WFS1, CPT2, HNF1B, PPARG, NEUROD1, HNF1A Specificity 2 % Genes 5 %
Pancreatic Agenesis and Congenital Heart Defects. By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. GATA6 Specificity 100 % Genes 5 %
Diabetes mellitus, neonatal permanent. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, RFX6, FOXP3, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, WFS1, HNF1B, PAX6, NEUROD1 Specificity 6 % Genes 5 %
Endocrine Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11 , (...) View the complete list with 37 more genes Panel GTR000512596 complete gene list GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, HADH, IER3IP1, NR5A1, ZMPSTE24, POR, FOXP3, BSCL2, HNF4A, PDX1, INS, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, KCNJ11, LHCGR, FGFR1, GNRH1, NR0B1, LMNA, ABCC8, CHD7, CYP17A1, CISD2, CAVIN1, GCK, WFS1, HNF1B, PPARG, NEUROD1, HNF1A Specificity 2 % Genes 5 %
MODY Neonatal Diabetes NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ZFP57, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, HADH, IER3IP1, CP, FOXP3, HNF4A, PDX1, INS , (...) View the complete list with 10 more genes Panel GTR000509445 complete gene list ZFP57, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, HADH, IER3IP1, CP, FOXP3, HNF4A, PDX1, INS, KCNJ11, CEL, ABCC8, CISD2, GLUD1, GCK, WFS1, HNF1B, NEUROD1, HNF1A Specificity 4 % Genes 5 %
GATA6. By Fulgent Genetics Fulgent Genetics in United States. GATA6 Specificity 100 % Genes 5 %
Comprehensive Monogenic Diabetes Panel. By Blueprint Genetics in Finland. ZFP57, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, SLC2A2, HADH, FOXP3, HNF4A, PDX1, INS, KCNJ11, ABCC8, GLUD1 , (...) View the complete list with 8 more genes Panel GTR000552672 complete gene list ZFP57, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, SLC2A2, HADH, FOXP3, HNF4A, PDX1, INS, KCNJ11, ABCC8, GLUD1, UCP2, GCK, WFS1, SLC16A1, HNF1B, PPARG, NEUROD1, HNF1A Specificity 4 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. CASQ2, TRDN, CALM1, RYR2, ANK2, KCNJ2 Specificity 17 % Genes 5 %
Catecholminergic Polymorphic Ventricular Tachycardia (CPVT) Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. CASQ2, TRDN, CALM1, RYR2, ANK2, KCNJ2 Specificity 17 % Genes 5 %
CPVTNext. By Ambry Genetics in United States. CASQ2, TRDN, CALM1, RYR2, ANK2, KCNJ2 Specificity 17 % Genes 5 %
KCNJ2 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. KCNJ2 Specificity 100 % Genes 5 %
KCNJ2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNJ2 Specificity 100 % Genes 5 %
Short QT syndrome 3 (deletions/duplications analysis of KCNJ2 gene). By CGC Genetics in Portugal. KCNJ2 Specificity 100 % Genes 5 %
Primary Periodic Paralysis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KCNJ2, CACNA1S, SCN4A Specificity 34 % Genes 5 %
Catecholaminergic polymorphic ventricular tachycardia NGS panel. By Connective Tissue Gene Tests in United States. TECRL, CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 12 % Genes 5 %
Catecholaminergic polymorphic ventricular tachycardia Comprehensive panel. By Connective Tissue Gene Tests in United States. TECRL, CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 12 % Genes 5 %
Periodic Palsy. By MGZ Medical Genetics Center in Germany. KCNJ12, KCNE3, KCNJ2, RYR1, CACNA1S, SCN4A Specificity 17 % Genes 5 %
Andersen Syndrome Type 1. By Bioscientia GmbH Center for Human Genetics in Germany. KCNJ2 Specificity 100 % Genes 5 %
Short QT syndrome type 3. By Centogene AG - the Rare Disease Company in Germany. KCNJ2 Specificity 100 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Paroxysmal/ Idiopathic Ventricular Fibrillation / Tachycardia Panel. By CeGaT GmbH in Germany. GNAI2, DPP6, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, SCN5A, KCNJ2 Specificity 20 % Genes 10 %
Bartter Syndrome incl. differential diagnosis Panel. By CeGaT GmbH in Germany. KCNJ18, KCNJ5, KCNE3, KCNJ2, CACNA1S, SCN4A Specificity 17 % Genes 5 %
Periodic paralysis Panel. By CeGaT GmbH in Germany. KCNJ5, KCNE3, KCNJ2, CACNA1S, SCN4A Specificity 20 % Genes 5 %
Long QT Syndrome 7. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNJ2 Specificity 100 % Genes 5 %
Skeletal Myopathy Panel. By Health in Code in Spain. CAVIN4, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT , (...) View the complete list with 26 more genes Panel GTR000521472 complete gene list CAVIN4, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, CAPN3, SGCB, SGCA, FKTN, HRAS, DMD, DOLK, PMM2, SLC22A5, SURF1, PHKA1, TAZ, COQ2, AGK, CRYAB, SLC25A4, DLD, GAA, AGL Specificity 3 % Genes 5 %
Andersen syndrome. By Praxis fuer Humangenetik Wien in Austria. KCNJ2 Specificity 100 % Genes 5 %
Short QT syndrome-3. By Praxis fuer Humangenetik Wien in Austria. KCNJ2 Specificity 100 % Genes 5 %
Andersen syndrome. By MedGene in Slovakia. KCNJ2 Specificity 100 % Genes 5 %
Long QT syndrome 7. By MedGene in Slovakia. KCNJ2 Specificity 100 % Genes 5 %
Invitae Hypokalemic Periodic Paralysis Panel. By Invitae in United States. KCNJ2, CACNA1S, SCN4A Specificity 34 % Genes 5 %
Invitae Comprehensive Myopathy Panel. By Invitae in United States. STIM1, LMOD3, STAC3, KLHL41, MYL2, MYPN, FKBP14, COL6A1, COL6A3, COL6A2, KCNJ2, DNAJB6, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10 , (...) View the complete list with 30 more genes Panel GTR000551743 complete gene list STIM1, LMOD3, STAC3, KLHL41, MYL2, MYPN, FKBP14, COL6A1, COL6A3, COL6A2, KCNJ2, DNAJB6, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, CACNA1S, SELENON, FHL1, BAG3, ATP2A1, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCN4A, DYSF, CAV3, LMNA, DNM2, NEB, SQSTM1, VCP, CRYAB, GNE, CPT2 Specificity 2 % Genes 5 %
Invitae Catecholaminergic Polymorphic Ventricular Tachycardia Panel. By Invitae in United States. CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 13 % Genes 5 %
Catecholaminergic polymorphic ventricular tachycardia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CASQ2, TRDN, CALM1, RYR2, KCNJ2 Specificity 20 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CASQ2, TRDN, CALM1, RYR2, ANK2, SCN5A, KCNJ2 Specificity 29 % Genes 10 %
KCNJ2. By Fulgent Genetics Fulgent Genetics in United States. KCNJ2 Specificity 100 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel. By Blueprint Genetics in Finland. TECRL, CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 12 % Genes 5 %
Periodic Paralysis Panel. By Blueprint Genetics in Finland. KCNJ2, CACNA1S, SCN4A, CLCN1 Specificity 25 % Genes 5 %
Comprehensive Metabolism Panel. By Blueprint Genetics in Finland. PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...) View the complete list with 414 more genes Panel GTR000552745 complete gene list PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1, EGF, SSR4, CNNM2, GPHN, PCK1, HMBS, TRPM6, UROD, SLC5A1, FMO3, LCT, HGD, UMPS, FXYD2, SLC7A9, PEX11B, GYG1, PEPD, FLNB, CLDN19, CLDN16, RBCK1, SLC6A19, ACY1, SLC30A10, ECHS1, LIPT1, CLPB, SERAC1, FAM111A, MAN1B1, SLC25A1, REN, AGPAT2, PLIN1, TBC1D4, LIPE, HJV, HAMP, TFR2, SI, SLC40A1, SLC39A4, INSR, TPMT, B3GLCT, PTF1A, AKT2, SLC2A2, HADH, PCBD1, SLC46A1, TMEM165, COG5, COG6, ALG11, COG4, NBAS, TRIM37, GNPAT, CD320, PGK1, ADAR, IFIH1, ZMPSTE24, MYH3, AMPD1, FBXL4, PRKAG2, CAV1, CNNM4, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, EBP, MAGT1, LAMP2, HCFC1, SEC23B, NEU1, UROS, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, PRPS1, COL11A2, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, ATP13A2, MFSD8, FLNA, ASAH1, ALG13, EPM2A, FOLR1, SLC35A2, NHLRC1, DPM2, LAMA2, ANO10, KCNA1, KCNJ2, RYR1, CACNA1S, BSCL2, CASR, KCNJ11, GCH1, SCN4A, DYSF, COQ4, CAV3, FKRP, CLCN1, LMNA, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, SLC7A7, SERPINA1, PEX7, PPT1, PEX2, CTNS, FKTN, CLN8, CLN6, GPC3, SLC2A1, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, PNP, HPD, GNMT, MOGS, DPAGT1, DOLK, SUGCT, ARSB, APRT, AHCY, AGA, ADA, ABCD4, PDHX, SLC6A8, CPOX, PPOX, FECH, CLN3, TPP1, GLRX5, ASL, APTX, PMM2, MGAT2, SLC25A20, SLC22A5, ASS1, SLC3A1, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CBS, L2HGDH, NAGS, SLC25A15, IVD, OXCT1, GALC, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFS1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, ISCU, CTSA, MPV17, OAT, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, LPIN1, HEXB, ALDH5A1, SUOX, GM2A, HEXA, TCN2, LMBRD1, MMADHC, XDH, ABCD1, PHKA1, TAZ, TIMM8A, PDHA1, OTC, AGPS, D2HGDH, ALG3, MPI, TYMP, ALG6, SLC35A1, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, ALG2, LDB3, MYOT, ANO5, CLCNKB, BSND, SLC12A3, UMOD, HNF4A, PDX1, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, GFM1, MPDU1, TK2, ACADSB, CTSD, POLG2, PNPLA2, SLC25A3, TUSC3, COG8, COG1, ACAD8, GYS1, RFT1, COQ8A, SUCLA2, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, TMEM126A, PHKG2, CAVIN1, IDH2, G6PC, PYGL, TAT, HMGCL, FAH, PHKA2, NFU1, SARS2, DHDDS, TMEM70, PDHB, ACSF3, BOLA3, DGUOK, DNM1L, AGK, LIAS, DDOST, DHODH, COQ6, PDSS1, PDSS2, COQ9, SMPD1, FH, OPA3, HADHA, MFN2, SLC25A13, ALAS2, NDUFAF2, RRM2B, FOXRED1, GCK, SLC25A4, POLG, DLD, HPRT1, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, GLB1, GNPTAB, PSAP, WFS1, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, SLC37A4, MTR, HNF1B, AMN, COL2A1, PPARG, MMACHC, HNF1A, ADSL, GAA, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATP7B, BTD, HLCS, ARG1, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, MCCC2, MCCC1, MTHFR, HFE Specificity 1 % Genes 5 %
Long QT syndrome type VII. By Bioarray in Spain. KCNJ2 Specificity 100 % Genes 5 %
Long QT syndrome type VII. By Bioarray in Spain. KCNJ2 Specificity 100 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CALM3, CASQ2, TRDN, CALM1, RYR2, KCNJ2 Specificity 17 % Genes 5 %
Ventricular Tachycardia, Catecholaminergic Polymorphic Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 15 % Genes 5 %
Andersen-Tawil Syndrome Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. KCNJ2 Specificity 100 % Genes 5 %
PERIODIC PARALYSIS, HYPOKALEMIC. By Laboratorio de Genetica Clinica SL in Spain. KCNJ18, KCNJ2, CACNA1S, SCN4A Specificity 25 % Genes 5 %
Phosphorus Catecholaminergic Polymorphic Ventricular Tachycardia Panel. By Phosphorus Diagnostics LLC in United States. CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 13 % Genes 5 %
Periodic Paralysis Advanced Sequencing Evaluation. By Athena Diagnostics Inc in United States. KCNJ2, CACNA1S, SCN4A Specificity 34 % Genes 5 %
KCNJ2 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. KCNJ2 Specificity 100 % Genes 5 %
KCNJ2. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNJ2 Specificity 100 % Genes 5 %
KCNJ2. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNJ2 Specificity 100 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel. By GeneDx in United States. CASQ2, RYR2, KCNJ2 Specificity 34 % Genes 5 %
KCNJ2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNJ2 Specificity 100 % Genes 5 %
Andersen-Tawil syndrome (sequence analysis of KCNJ2 gene). By CGC Genetics in Portugal. KCNJ2 Specificity 100 % Genes 5 %
Andersen Syndrome Type 1. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. KCNJ2 Specificity 100 % Genes 5 %
Andersen-Tawil Syndrome/Long QT Syndrome via the KCNJ2 Gene. By PreventionGenetics PreventionGenetics in United States. KCNJ2 Specificity 100 % Genes 5 %
Catecholaminergic polymorphic ventricular tachycardia Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. TECRL, CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 12 % Genes 5 %
Single gene testing KCNJ2. By CeGaT GmbH in Germany. KCNJ2 Specificity 100 % Genes 5 %
Andersen Syndrome Type 1,KCNJ2. By GGA - Galil Genetic Analysis in Israel. KCNJ2 Specificity 100 % Genes 5 %
Short QT Syndrome 3. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNJ2 Specificity 100 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia. By Asper Biogene Asper Biogene LLC in Estonia. CASQ2, TRDN, CALM1, RYR2, ANK2, KCNJ2 Specificity 17 % Genes 5 %
Short QT Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. KCNQ1-AS1, CACNB2, CACNA1C, KCNH2, KCNJ2 Specificity 20 % Genes 5 %
KCNJ2 gene sequencing. By Health in Code in Spain. KCNJ2 Specificity 100 % Genes 5 %
Catecholaminergic Polymorphic VT Panel. By Health in Code in Spain. CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, SCN5A, KCNJ2 Specificity 25 % Genes 10 %
Skeletal myopathy Panel. By Health in Code in Spain. CAVIN4, XK, SPEG, TOR1AIP1, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1 , (...) View the complete list with 37 more genes Panel GTR000530654 complete gene list CAVIN4, XK, SPEG, TOR1AIP1, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, CAPN3, SGCB, SGCA, FKTN, HRAS, DMD, DOLK, SDHA, PMM2, SLC22A5, FXN, SURF1, PHKA1, TAZ, SCO2, COQ2, SLC25A3, CAVIN1, AGK, CRYAB, SLC25A4, DLD, GAA, AGL Specificity 2 % Genes 5 %
Catecholaminergic polymorphic ventricular tachycardia panel. By Health in Code in Spain. CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, SCN5A, KCNJ2 Specificity 23 % Genes 10 %
Andersen Syndrome Type 1. By Clinical Genomics Maastricht University Medical Centre in Netherlands. KCNJ2 Specificity 100 % Genes 5 %
Atrial fibrillation, familial, 9. By Praxis fuer Humangenetik Wien in Austria. KCNJ2 Specificity 100 % Genes 5 %
Long QT syndrome 7. By Praxis fuer Humangenetik Wien in Austria. KCNJ2 Specificity 100 % Genes 5 %
Andersen Syndrome. By Medical Genetics Laboratory Hallym University Hangang Sacred Heart Hospital in South Korea. KCNJ2 Specificity 100 % Genes 5 %
Atrial fibrillation, familial, 9. By MedGene in Slovakia. KCNJ2 Specificity 100 % Genes 5 %
Short QT syndrome-3. By MedGene in Slovakia. KCNJ2 Specificity 100 % Genes 5 %
Invitae Comprehensive Neuromuscular Disorders Panel. By Invitae in United States. VMA21, STIM1, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL2, MYPN, FKBP14, LAMP2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB , (...) View the complete list with 84 more genes Panel GTR000551683 complete gene list VMA21, STIM1, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL2, MYPN, FKBP14, LAMP2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, KCNJ2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, CACNA1S, SELENON, FHL1, BAG3, ATP2A1, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCN4A, DYSF, CAV3, FKRP, CLCN1, SMN2, LMNA, DNM2, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, SMN1, DMD, DPAGT1, CHAT, TAZ, SQSTM1, ALG2, DPM1, PNPLA2, DPM3, VCP, CRYAB, TRIM32, GNE, CPT2, GAA Specificity 1 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia. By Genomics and Pathology Services Washington University in St. Louis in United States. CASQ2, CALM1, RYR2, ANK2, KCNJ2 Specificity 20 % Genes 5 %
KCNJ2 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. KCNJ2 Specificity 100 % Genes 5 %
KCNJ2 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. KCNJ2 Specificity 100 % Genes 5 %
LONG QT SYNDROME, ANDERSEN-TAWIL SYNDROME (AUTOSOMAL DOMINANT). By Laboratorio de Genetica Clinica SL in Spain. KCNJ2 Specificity 100 % Genes 5 %
ANDERSEN-TAWIL SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. KCNJ2 Specificity 100 % Genes 5 %
Short QT Syndrome Type 3 , Sequencing KCNJ2 Gene. By Reference Laboratory Genetics in Spain. KCNJ2 Specificity 100 % Genes 5 %
Andersen-Tawil Syndrome , Sequencing KCNJ2 Gene. By Reference Laboratory Genetics in Spain. KCNJ2 Specificity 100 % Genes 5 %
NPPA. By Institute for Human Genetics University Clinic Freiburg in Germany. NPPA Specificity 100 % Genes 5 %
Atrial fibrillation, familial 6 (sequence analysis of NPPA gene). By CGC Genetics in Portugal. NPPA Specificity 100 % Genes 5 %
Atrial Fibrillation Syndrome via NPPA Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. NPPA Specificity 100 % Genes 5 %
Atrial fibrillation type 6. By Centogene AG - the Rare Disease Company in Germany. NPPA Specificity 100 % Genes 5 %
NPPA. By Fulgent Genetics Fulgent Genetics in United States. NPPA Specificity 100 % Genes 5 %
Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants). By HeartGenetics, Genetics and Biotechnology, SA in Portugal. ADRA1A, CALCA, GRK4, ADD1, ADRB1, NOS2, STK39, AGTR1, ADRB2, ECE1, AGT, NOS3, REN, NPPA, NR3C2, ACE, GNB3, NEDD4L, AGTR2, CLCNKA , (...) View the complete list with 6 more genes Panel GTR000509477 complete gene list ADRA1A, CALCA, GRK4, ADD1, ADRB1, NOS2, STK39, AGTR1, ADRB2, ECE1, AGT, NOS3, REN, NPPA, NR3C2, ACE, GNB3, NEDD4L, AGTR2, CLCNKA, CLCNKB, SCNN1B, SCNN1A, SLC12A3, HSD11B2, WNK1 Specificity 4 % Genes 5 %
Arterial Hypertension Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. BMPR2, ABCA3, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, ENG, SMAD4 Specificity 10 % Genes 5 %
Pulmonary Arterial Hypertension Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. BMPR2, ABCA3, KCNA5, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, ENG, SMAD4 Specificity 10 % Genes 5 %
KCNA5. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNA5 Specificity 100 % Genes 5 %
Pulmonary Hypertension Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. EIF2AK4, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, RASA1, ENG, SMAD4, FOXF1 Specificity 8 % Genes 5 %
Pulmonary Hypertension Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. EIF2AK4, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, RASA1, ENG, SMAD4, FOXF1 Specificity 8 % Genes 5 %
Pulmonary Hypertension Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. EIF2AK4, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, RASA1, ENG, SMAD4, FOXF1 Specificity 8 % Genes 5 %
Comprehensive Pulmonary-Vascular Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...) View the complete list with 44 more genes Panel GTR000553479 complete gene list HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS Specificity 2 % Genes 5 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...) View the complete list with 44 more genes Panel GTR000553502 complete gene list HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS Specificity 2 % Genes 5 %
KCNA5-related pulmonary arterial hypertension (PAH). By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. KCNA5 Specificity 100 % Genes 5 %
Pulmonary Hypertension Panel. By Health in Code in Spain. SMAD1, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, NOTCH3, ENG, SMAD4 Specificity 9 % Genes 5 %
Comprehensive Pulmonary Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40 , (...) View the complete list with 73 more genes Panel GTR000556317 complete gene list SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, CSF2RB, EFEMP2, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, GDF2, DOCK8, CCNO, CCDC151, CENPF, PARN, RSPH3, GAS8, DNAJB13, TTC25, SFTPD, TERT, MCIDAS, DNAH1, ELMOD2, DNAH8, BMPR1B, ACVRL1, TERC, BLOC1S6, DKC1, EDN3, OFD1, SCNN1B, SCNN1G, SCNN1A, RTEL1, SLC7A7, SERPINA1, ENG, SMAD4, FLCN, PHOX2B, TSC1, TSC2, TINF2, FOXF1, CFTR, STAT3, ALMS1, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, RPGR, DTNBP1, ELN, FBLN5, INVS Specificity 2 % Genes 5 %
KCNA5. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNA5 Specificity 100 % Genes 5 %
Comprehensive Pulmonary-Vascular Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...) View the complete list with 45 more genes Panel GTR000553478 complete gene list HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS Specificity 2 % Genes 5 %
Atrial fibrillation, familial 7 (sequence analysis of KCNA5 gene). By CGC Genetics in Portugal. KCNA5 Specificity 100 % Genes 5 %
Atrial Fibrillation Syndrome via the KCNA5 Gene. By PreventionGenetics PreventionGenetics in United States. KCNA5 Specificity 100 % Genes 5 %
Atrial fibrillation type 7. By Centogene AG - the Rare Disease Company in Germany. KCNA5 Specificity 100 % Genes 5 %
Pulmonary hypertension Panel. By Health in Code in Spain. TOPBP1, SMAD1, EIF2AK4, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, RASA1, NOTCH3, ENG, SMAD4, FOXF1 Specificity 7 % Genes 5 %
KCNA5. By Fulgent Genetics Fulgent Genetics in United States. KCNA5 Specificity 100 % Genes 5 %
Pulmonary Artery Hypertension (PAH) Panel. By Blueprint Genetics in Finland. TBX4, EIF2AK4, BMPR2, KCNA5, CAV1, KCNK3, ACVRL1, RASA1, ENG, SMAD4, FOXF1, NFU1 Specificity 9 % Genes 5 %
SCN2B. By Institute for Human Genetics University Clinic Freiburg in Germany. SCN2B Specificity 100 % Genes 5 %
SCN2B. By Fulgent Genetics Fulgent Genetics in United States. SCN2B Specificity 100 % Genes 5 %
SCN2B Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SCN2B Specificity 100 % Genes 5 %
SCN2B-related Brugada Syndrome. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. SCN2B Specificity 100 % Genes 5 %
Atrial Fibrillation via the SCN2B Gene. By PreventionGenetics PreventionGenetics in United States. SCN2B Specificity 100 % Genes 5 %
Familial Atrial Fibrillation Type 14, Sequencing SCN2B Gene. By Reference Laboratory Genetics in Spain. SCN2B Specificity 100 % Genes 5 %
Dilated & Arrhythmogenic Cardiomyopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3 , (...) View the complete list with 31 more genes Panel GTR000558810 complete gene list VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, LAMA4, ACTC1, NEBL, CASQ2, TRDN, RYR2, PKP2, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, PTPN11, GLA, DMD, DOLK, TAZ, RAF1, CRYAB, DSP, TTR Specificity 2 % Genes 5 %
SCN5A. By Institute for Human Genetics University Clinic Freiburg in Germany. SCN5A Specificity 100 % Genes 5 %
DCM/LVNC Sequencing Panel. By GeneDx in United States. MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-ND5, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2 , (...) View the complete list with 17 more genes Panel GTR000520448 complete gene list MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-ND5, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, MT-TS2, MT-TS1, SCN5A, SGCD, TCAP, EMD, MYBPC3, LDB3, MYH7, DES, TTN, MT-ND6, MT-ND1, MT-TK, LMNA, TAZ, TTR Specificity 3 % Genes 5 %
SCN5A mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. SCN5A Specificity 100 % Genes 5 %
LMNA, MYBPC3, MYH7, SCN5A, TNNI3, TNNT2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TNNT2, TNNI3, SCN5A, MYBPC3, MYH7, LMNA Specificity 17 % Genes 5 %
SCN5A. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SCN5A Specificity 100 % Genes 5 %
SCN5A-Related Dilated Cardiomyopathy. By CGC Genetics in Portugal. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome 3 (sequence analysis of SCN5A gene). By CGC Genetics in Portugal. SCN5A Specificity 100 % Genes 5 %
Brugada Syndrome 1 (sequence analysis of SCN5A gene). By CGC Genetics in Portugal. SCN5A Specificity 100 % Genes 5 %
Sinus node syndrome (NGS panel for 3 genes). By CGC Genetics in Portugal. MYH6, SCN5A, HCN4 Specificity 34 % Genes 5 %
Familial dilated cardiomyopathy type 1E (deletions/duplications analysis of SCN5A gene). By CGC Genetics in Portugal. SCN5A Specificity 100 % Genes 5 %
Brugada Syndrome type 1. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. SCN5A Specificity 100 % Genes 5 %
Progressive familial heart block type I NGS panel. By Connective Tissue Gene Tests in United States. TRPM4, SCN5A Specificity 50 % Genes 5 %
Progressive familial heart block type I Comprehensive panel. By Connective Tissue Gene Tests in United States. TRPM4, SCN5A Specificity 50 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) / Arrhythmogenic Right Ventricular Dysplasia (ARVD). By MGZ Medical Genetics Center in Germany. CASQ2, CALM1, SCN5A Specificity 34 % Genes 5 %
Dilated Cardiomyopathy Sequential Panel. By FirmaLab in United States. TNNT2, ACTC1, SCN5A, MYH7, TTN, LMNA Specificity 17 % Genes 5 %
Brugada Syndrome 1. By Bioscientia GmbH Center for Human Genetics in Germany. SCN5A Specificity 100 % Genes 5 %
Brugada syndrome. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. SCN5A Specificity 100 % Genes 5 %
Ventricular fibrillation, paroxysmal familial type 1. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Atrial fibrillation type 10. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Cardiomyopathy, dilated type 1E. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Heart block type 1. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
BRUGADA SYNDROME 1; BRGDA1. By Duzen Laboratuvarlar Grubu Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS in Turkey. SCN5A Specificity 100 % Genes 5 %
SCN5A sequencing. By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece. SCN5A Specificity 100 % Genes 5 %
QT syndrome, SCN5A. By GGA - Galil Genetic Analysis in Israel. SCN5A Specificity 100 % Genes 5 %
Dilated cardiomyopathy with conduction disorders Stage 3. By Health in Code in Spain. SCN5A Specificity 100 % Genes 5 %
SCN5A-Related Disorders. By Clinical Genomics Maastricht University Medical Centre in Netherlands. SCN5A Specificity 100 % Genes 5 %
Long QT Syndrome 3. By Clinical Genomics Maastricht University Medical Centre in Netherlands. SCN5A Specificity 100 % Genes 5 %
Invitae Left Ventricular Noncompaction Panel. By Invitae in United States. VCL, TNNT2, TPM1, PLN, TNNI3, ACTC1, RYR2, LAMP2, SCN5A, HCN4, MYBPC3, MYH7, LMNA, TAZ, DSP Specificity 7 % Genes 5 %
Dilated cardiomyopathy: SCN5A gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SCN5A Specificity 100 % Genes 5 %
CARDIOMYOPATHY, DILATED (DCM. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3 , (...) View the complete list with 12 more genes Panel GTR000531425 complete gene list TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, PSEN2, LMNA, DMD, TAZ, EYA4, PSEN1, TTR Specificity 4 % Genes 5 %
Brugada syndrome type I. By Bioarray in Spain. SCN5A Specificity 100 % Genes 5 %
Cardiomyopathy, dilated type 1E. By Bioarray in Spain. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome type III. By Bioarray in Spain. SCN5A Specificity 100 % Genes 5 %
Brugada Syndrome Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN5A Specificity 100 % Genes 5 %
Arrhythmogenic Right Ventricular Cardiomyopathy Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, SCN5A, TMEM43, DES, TTN, LMNA, DSP Specificity 8 % Genes 5 %
Long QT Syndrome Type 3 , Sequencing SCN5A Gene. By Reference Laboratory Genetics in Spain. SCN5A Specificity 100 % Genes 5 %
Dilated Cardiomyopathy, Sequencing SCN5A Gene. By Reference Laboratory Genetics in Spain. SCN5A Specificity 100 % Genes 5 %
Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes. By Reference Laboratory Genetics in Spain. VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3, BAG3, LDB3 , (...) View the complete list with 10 more genes Panel GTR000559545 complete gene list VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, PSEN2, LMNA, DMD, TAZ, EYA4, PSEN1, TTR Specificity 4 % Genes 5 %
Long QT syndrome 3. By Labor Dr. Wisplinghoff in Germany. SCN5A Specificity 100 % Genes 5 %
Targeted CM panel. By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS in Italy. DSC2, TNNT2, TPM1, JUP, DSG2, NEXN, TNNI3, PKP2, SCN5A, TMEM43, MYBPC3, LDB3, MYH7, LMNA, DSP Specificity 7 % Genes 5 %
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CALR3, MIB1, ALPK3, CTNNA3, FHL2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 31 more genes Panel GTR000500470 complete gene list CALR3, MIB1, ALPK3, CTNNA3, FHL2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, PKP2, LAMP2, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, GLA, TAZ, CRYAB, DSP, TTR Specificity 2 % Genes 5 %
SCN5A. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SCN5A Specificity 100 % Genes 5 %
SCN5A-Related Disorders. By CGC Genetics in Portugal. SCN5A Specificity 100 % Genes 5 %
Familial dilated cardiomyopathy type 1E (deletions/duplications analysis of SCN5A gene). By CGC Genetics in Portugal. SCN5A Specificity 100 % Genes 5 %
Brugada Syndrome 1 via the SCN5A Gene. By PreventionGenetics PreventionGenetics in United States. SCN5A Specificity 100 % Genes 5 %
Progressive familial heart block type I Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. TRPM4, SCN5A Specificity 50 % Genes 5 %
Brugada Syndrome. By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada. SCN5A Specificity 100 % Genes 5 %
SCN5A-Related Disorders. By Bioscientia GmbH Center for Human Genetics in Germany. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome type 3. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Sick sinus syndrome. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Brugada syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Sudden infant death syndrom. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
SCN5A-Related Disorders. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN5A Specificity 100 % Genes 5 %
Brugada Syndrome 1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN5A Specificity 100 % Genes 5 %
Brugada Syndrome 1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN5A Specificity 100 % Genes 5 %
Long QT Syndrome 3. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN5A Specificity 100 % Genes 5 %
Sick-Sinus-Syndrome 1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome, SCN5A sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. SCN5A Specificity 100 % Genes 5 %
SCN5A gene sequencing. By Health in Code in Spain. SCN5A Specificity 100 % Genes 5 %
Arrythmogenic Cardiomyopathy Panel. By Health in Code in Spain. CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, CASQ2, RYR2, PKP2, SCN5A, TMEM43, LDB3, FLNC, DES, TTN, LMNA, DSP Specificity 6 % Genes 5 %
Arrhythmogenic cardiomyopathy. By Health in Code in Spain. PPP1R13L, PERP, PKP4, CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, CASQ2, RYR2, PKP2, CTNNB1, SCN5A, TMEM43, LDB3, FLNC, DES, TTN, LMNA , (...) View the complete list with 1 more genes Panel GTR000530647 complete gene list PPP1R13L, PERP, PKP4, CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, CASQ2, RYR2, PKP2, CTNNB1, SCN5A, TMEM43, LDB3, FLNC, DES, TTN, LMNA, DSP Specificity 5 % Genes 5 %
Brugada Syndrome 1. By Clinical Genomics Maastricht University Medical Centre in Netherlands. SCN5A Specificity 100 % Genes 5 %
SCN5A-Related Dilated Cardiomyopathy. By Clinical Genomics Maastricht University Medical Centre in Netherlands. SCN5A Specificity 100 % Genes 5 %
SCN5A Gene Sequencing. By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia. SCN5A Specificity 100 % Genes 5 %
Invitae Arrhythmogenic Cardiomyopathy Panel. By Invitae in United States. DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, RYR2, PKP2, SCN5A, EMD, TMEM43, FLNC, DES, TTN, LMNA, DSP Specificity 6 % Genes 5 %
Brugada syndrome: SCN5A gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome type 3: SCN5A gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SCN5A Specificity 100 % Genes 5 %
SCN5A. By Fulgent Genetics Fulgent Genetics in United States. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome type III. By Bioarray in Spain. SCN5A Specificity 100 % Genes 5 %
SCN5A Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SCN5A Specificity 100 % Genes 5 %
SCN5A Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN5A Specificity 100 % Genes 5 %
Channelopathies. By Cardiovascular Genetics PO San Francesco-NUORO (IT) in Italy. KCNQ1-AS1, CASQ2, RYR2, SCN5A, KCNH2 Specificity 20 % Genes 5 %
FAMILIAL DILATED CARDIOMYOPATHY. By Laboratorio de Genetica Clinica SL in Spain. TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, SCN5A, TCAP, MYBPC3, BAG3, LDB3 , (...) View the complete list with 5 more genes Panel GTR000553650 complete gene list TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, SCN5A, TCAP, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, EYA4 Specificity 4 % Genes 5 %
Brugada Syndrome Type 1 , Sequencing SCN5A Gene. By Reference Laboratory Genetics in Spain. SCN5A Specificity 100 % Genes 5 %
Phosphorus Arrhythmogenic Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TGFB3, RYR2, PKP2, SCN5A, EMD, TMEM43, LDB3, DES, TTN, LMNA, DSP Specificity 5 % Genes 5 %
Phosphorus Left Ventricular Noncompaction Panel. By Phosphorus Diagnostics LLC in United States. VCL, ACTN2, TNNT2, TPM1, PLN, TNNI3, ACTC1, RYR2, LAMP2, SCN5A, HCN4, MYBPC3, LDB3, MYH7, LMNA, TAZ, DSP Specificity 6 % Genes 5 %
Atrial Fibrillation Syndrome via MYL4 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MYL4 Specificity 100 % Genes 5 %
MYL4. By Fulgent Genetics Fulgent Genetics in United States. MYL4 Specificity 100 % Genes 5 %
SCN3B. By Institute for Human Genetics University Clinic Freiburg in Germany. SCN3B Specificity 100 % Genes 5 %
Brugada Syndrome via SCN3B Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SCN3B Specificity 100 % Genes 5 %
Brugada Syndrome 7. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN3B Specificity 100 % Genes 5 %
SCN3B. By Fulgent Genetics Fulgent Genetics in United States. SCN3B Specificity 100 % Genes 5 %
Brugada syndrome type VII. By Bioarray in Spain. SCN3B Specificity 100 % Genes 5 %
SCN3B Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SCN3B Specificity 100 % Genes 5 %
SCN3B Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN3B Specificity 100 % Genes 5 %
Brugada syndrome 7 (sequence analysis of SCN3B gene). By CGC Genetics in Portugal. SCN3B Specificity 100 % Genes 5 %
Brugada Syndrome type 7. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. SCN3B Specificity 100 % Genes 5 %
Brugada syndrome type 7. By Centogene AG - the Rare Disease Company in Germany. SCN3B Specificity 100 % Genes 5 %
KCNE2. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNE2 Specificity 100 % Genes 5 %
KCNE2 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. KCNE2 Specificity 100 % Genes 5 %
Long QT Syndrome via the KCNE2 Gene. By PreventionGenetics PreventionGenetics in United States. KCNE2 Specificity 100 % Genes 5 %
Long QT syndrome type 6. By Centogene AG - the Rare Disease Company in Germany. KCNE2 Specificity 100 % Genes 5 %
KCNE2 gene sequencing. By Health in Code in Spain. KCNE2 Specificity 100 % Genes 5 %
Long QT Syndrome 6. By Clinical Genomics Maastricht University Medical Centre in Netherlands. KCNE2 Specificity 100 % Genes 5 %
Atrial fibrillation, familial, 4. By Praxis fuer Humangenetik Wien in Austria. KCNE2 Specificity 100 % Genes 5 %
KCNE2. By Fulgent Genetics Fulgent Genetics in United States. KCNE2 Specificity 100 % Genes 5 %
Long QT syndrome type VI. By Bioarray in Spain. KCNE2 Specificity 100 % Genes 5 %
Long QT syndrome type VI. By Bioarray in Spain. KCNE2 Specificity 100 % Genes 5 %
KCNE2 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. KCNE2 Specificity 100 % Genes 5 %
KCNE2. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNE2 Specificity 100 % Genes 5 %
KCNE2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNE2 Specificity 100 % Genes 5 %
Long QT syndrome type 6 (LQT6, sequence analysis of KCNE2 gene). By CGC Genetics in Portugal. KCNE2 Specificity 100 % Genes 5 %
Atrial fibrillation type 4. By Centogene AG - the Rare Disease Company in Germany. KCNE2 Specificity 100 % Genes 5 %
Long QT syndrome 6. By Praxis fuer Humangenetik Wien in Austria. KCNE2 Specificity 100 % Genes 5 %
Atrial fibrillation, familial, 4. By MedGene in Slovakia. KCNE2 Specificity 100 % Genes 5 %
Long QT syndrome 6. By MedGene in Slovakia. KCNE2 Specificity 100 % Genes 5 %
Long QT syndrome type 6: KCNE2 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNE2 Specificity 100 % Genes 5 %
KCNE2 Gene Sequencing and Deletion/Duplication analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. KCNE2 Specificity 100 % Genes 5 %
Long QT Syndrome Type 6 , Sequencing KCNE2 Gene. By Reference Laboratory Genetics in Spain. KCNE2 Specificity 100 % Genes 5 %

Alternate names

Atrial Fibrillation, Familial, 1; Atfb1 Is also known as atrial fibrillation, autosomal dominant;.

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