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.

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.


Mendelian

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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like YOU-HOOVER-FONG SYNDROME; YHFS MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B CAMPOMELIC DYSPLASIA

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