Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Mddga1

Description

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A)Muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGA3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGA4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGA5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGA6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); MDDGA7 (OMIM ), caused by mutation in the ISPD gene (OMIM ); MDDGA8 (OMIM ) caused by mutation in the GTDC2 gene (OMIM ); MDDGA9 (OMIM ), caused by mutation in the DAG1 gene (OMIM ); MDDGA10 (OMIM ), caused by mutation in the TMEM5 gene (OMIM ); MDDGA11 (OMIM ), caused by mutation in the B3GALNT2 gene (OMIM ); MDDGA12 (OMIM ), caused by mutation in the SGK196 gene (OMIM ); MDDGA13 (OMIM ), caused by mutation in the B3GNT1 gene (OMIM ); and MDDGA14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

Genes related to Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Mddga1

COL4A1
B3GALNT2
FKTN
POMK
POMT1
POMT2
POMGNT1
FKRP
LARGE1
ISPD
DAG1
POMGNT2
B4GAT1
RXYLT1

Clinical Features

Top most frequent phenotypes and symptoms related to Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Mddga1

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Hypertelorism
Growth delay
Muscular hypotonia
Cleft palate
Cryptorchidism

And another 96 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Mddga1 have a estimated birth prevalence of 1.65 per 100k worldwide.

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Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Mddga1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
COL4A1 Sequencing Test (CSVD). By Athena Diagnostics Inc in United States. COL4A1 Specificity 100 % Genes 8 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations. By Athena Diagnostics Inc in United States. TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1 , (...) View the complete list with 20 more genes Panel GTR000559458 complete gene list TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, FOLR1, ASPM, MCPH1, LARGE1, LAMA2, POMT1, POMT2, FKRP, DPYD, POMGNT1, PEX7, FKTN, WDR62, ARX, FGFR3, TUBA1A, SLC25A19, SHH, CPT2, PAX6 Specificity 18 % Genes 50 %
Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...) View the complete list with 214 more genes Panel GTR000559466 complete gene list IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, CACNA2D1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, DYNC1H1, CASR, KCNJ11, CACNA1A, FKRP, NOTCH3, SCN1A, CSTB, DPYD, PLA2G6, PHGDH, CLN5, POMGNT1, PEX7, PPT1, FKTN, CLN8, CLN6, GPC3, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, TSC2, WDR62, SLC2A1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, FGFR3, SLC6A8, WWOX, CLN3, TPP1, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, SLC9A6, AMT, GLDC, GRN, ALG9, SLC25A22, CTSD, TUBA1A, SUCLA2, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, PANK2, SLC25A19, POLG, SHH, ADGRV1, HPRT1, HSD17B10, ATP6V0A2, CPT2, PAX6, ADSL, ALPL, UBE3A Specificity 3 % Genes 50 %
Optic Atrophy and Early Glaucoma Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SH3PXD2B, SLC4A4, LTBP2, ASB10, FOXE3, MAF, TBK1, ACVR1, CANT1, NR2F1, COL4A1, SBF2, MYOC, LMX1B, NDUFS1, CISD2, SPG7, TMEM126A, MTPAP, ACO2 , (...) View the complete list with 14 more genes Panel GTR000558970 complete gene list SH3PXD2B, SLC4A4, LTBP2, ASB10, FOXE3, MAF, TBK1, ACVR1, CANT1, NR2F1, COL4A1, SBF2, MYOC, LMX1B, NDUFS1, CISD2, SPG7, TMEM126A, MTPAP, ACO2, OPA3, POLG, CYP1B1, MFRP, PITX2, FOXC1, WFS1, OPA1, OPTN, PITX3, PAX6, C12orf65, BEST1, AUH Specificity 3 % Genes 8 %
Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...) View the complete list with 86 more genes Panel GTR000552175 complete gene list DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, RAB3GAP2, GLI3, EZH2, NFIX, ATR, PCNT, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, UPF3B, LAMC3, MED12, ACTG1, ACTB, ZEB2, CUL4B, CASK, OPHN1, PHF6, ATRX, OFD1, KIF1BP, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, ASPM, MCPH1, LARGE1, POMT1, POMT2, VRK1, L1CAM, FGF8, FKRP, AHI1, TMEM216, POMGNT1, FKTN, PTCH1, NSD1, NIPBL, WDR62, FOXG1, DHCR7, CDKL5, ARX, HESX1, SOX2, MKS1, SLC9A6, MRPS16, RARS2, TUBA1A, MECP2, SLC25A19, SHH, CEP290, NPHP1, TMEM67, OTX2, CC2D2A, TUBB3, PTEN, UBE3A Specificity 7 % Genes 50 %
Migraine and Strokes Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. HTRA1, COL4A1, ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG Specificity 13 % Genes 8 %
Septo-Optic Dysplasia and Schizencephaly. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. SIX3, EMX2, COL4A1, HESX1, SOX2, SHH Specificity 17 % Genes 8 %
Anophthalmia/microphthalmia. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark. ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, ALX1, VSX2, FREM1, VAX1, RARB, GJA1, FOXE3, GDF6, GLI3, TFAP2A, COL4A1, PORCN, PAX2, SOX2 , (...) View the complete list with 9 more genes Panel GTR000553010 complete gene list ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, ALX1, VSX2, FREM1, VAX1, RARB, GJA1, FOXE3, GDF6, GLI3, TFAP2A, COL4A1, PORCN, PAX2, SOX2, SIX6, BCOR, HCCS, STRA6, NHS, OTX2, MFRP, ABCB6, RAX Specificity 4 % Genes 8 %
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 8 %
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. RHAG, EPB42, XK, ANK1, SPTA1, SPTB, EPB41, KCNN4, ATP11C, GYPC, SLC4A1, ABCG8, ABCG5, PIEZO1, COL4A1, SLC2A1 Specificity 7 % Genes 8 %
Hemolytic Anemia Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. LPIN2, C15orf41, GSS, TPI1, GSR, GCLC, RHAG, EPB42, XK, ANK1, SPTA1, SPTB, EPB41, KCNN4, ATP11C, GYPC, SLC4A1, ABCG8, ABCG5, PGK1 , (...) View the complete list with 18 more genes Panel GTR000509191 complete gene list LPIN2, C15orf41, GSS, TPI1, GSR, GCLC, RHAG, EPB42, XK, ANK1, SPTA1, SPTB, EPB41, KCNN4, ATP11C, GYPC, SLC4A1, ABCG8, ABCG5, PGK1, SEC23B, CDAN1, PKLR, KLF1, GATA1, KIF23, PIEZO1, COL4A1, G6PD, SLC2A1, PFKM, HK1, NT5C3A, AK1, GPI, GPX1, ALAS2, ALDOA Specificity 3 % Genes 8 %
COL4A1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. COL4A1 Specificity 100 % Genes 8 %
Dystonia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. NUP62, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, ECHS1, LIPT1, KCTD17, HPCA, XPR1, ANO3, HIVEP2, GNB1, DNAJC6, SLC39A14, VAC14, UBA5, TBCD, MECR , (...) View the complete list with 150 more genes Panel GTR000553219 complete gene list NUP62, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, ECHS1, LIPT1, KCTD17, HPCA, XPR1, ANO3, HIVEP2, GNB1, DNAJC6, SLC39A14, VAC14, UBA5, TBCD, MECR, KMT2B, MDH2, CLPB, SERAC1, PDGFB, PDGFRB, COX20, HEPACAM, MICU1, DNAJC12, PRKRA, TPI1, XK, VPS35, SLC6A3, DDC, EARS2, FBXO7, SLC20A2, TPK1, CSF1R, COX10, DCAF17, COASY, CP, FTL, ADAR, TUBB4A, C19orf12, IFIH1, HACE1, TOR1AIP1, NKX2-1, AARS, SLC16A2, TAF1, FUCA1, VPS13A, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, PNKP, SCN8A, WDR45, GNAO1, ATP13A2, MFSD8, DNAJC5, CTSF, COL4A1, PRRT2, TBC1D24, SYNJ1, SLC19A3, ATP1A3, ATP1A2, ALS2, FA2H, BSCL2, SGCE, GCH1, THAP1, TOR1A, PLA2G6, CLN5, MLC1, TH, PPT1, CLN8, CLN6, ATM, SLC2A1, PLP1, NPC2, NPC1, FOXG1, ARX, ARSA, SDHA, PDHX, SLC6A8, TACO1, PNKD, CLN3, TPP1, APTX, PRKN, CYP27A1, LRPPRC, GCDH, CBS, L2HGDH, DLAT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, QDPR, PTS, SUOX, GM2A, HEXA, MMADHC, TIMM8A, PDHA1, SQSTM1, PINK1, PARK7, GRN, CTSD, HTRA2, COQ8A, SUCLA2, STXBP1, SPR, GAMT, SCP2, NDUFA10, TTC19, NDUFA9, NDUFA12, MECP2, PANK2, NDUFAF2, FOXRED1, AFG3L2, NDUFS4, POLG, HPRT1, GLB1, PSEN1, BCS1L, AUH, ATP7B, UQCRQ, AARS2 Specificity 1 % Genes 8 %
Familial Porencephaly. By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom. COL4A2, COL4A1 Specificity 50 % Genes 8 %
COL4A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL4A1 Specificity 100 % Genes 8 %
COL4A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL4A1 Specificity 100 % Genes 8 %
COL4A1, COL4A2. NextGeneDx. Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL4A2, COL4A1 Specificity 50 % Genes 8 %
Porencephaly 1 (sequence analysis of COL4A1 gene). By CGC Genetics in Portugal. COL4A1 Specificity 100 % Genes 8 %
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 8 %
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 8 %
Brain small vessel disease with hemorrhage. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. COL4A1 Specificity 100 % Genes 8 %
Porencephaly 1. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. COL4A1 Specificity 100 % Genes 8 %
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. COL4A1 Specificity 100 % Genes 8 %
STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. COL4A2, ACE, COL4A1 Specificity 34 % Genes 8 %
COL4A1-Related Disorders. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. COL4A1 Specificity 100 % Genes 8 %
Porencephaly 1. By Exeter Molecular Genetics Laboratory in United Kingdom. COL4A1 Specificity 100 % Genes 8 %
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 8 %
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 8 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2 , (...) View the complete list with 134 more genes Panel GTR000560807 complete gene list ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2, TREM2, CSF1R, COX10, MARS2, DCAF17, GJA1, CTC1, RNASET2, ADAR, CYP2U1, TUBB4A, ERCC6, GAN, CLCN2, SLC16A2, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, SOX10, POLR1C, CLPP, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADGRG1, COL4A1, FOLR1, SLC19A3, DAG1, SPART, FA2H, CYP7B1, NOTCH3, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, GJB1, EIF2B5, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, PPT1, PEX2, PLP1, NPC2, NPC1, IKBKG, IDS, GLA, GJC2, EIF2B1, ASPA, ARSA, AGA, MTFMT, FARS2, CYP27A1, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, GALC, NDUFS2, NDUFV1, NDUFS1, SDHAF1, MOCS1, NDUFS8, SURF1, COX15, TCIRG1, PAH, ACOX1, ALDH3A2, ALDH5A1, HEXA, ABCD1, OTC, D2HGDH, TYMP, SPG7, COQ2, GFM1, TUFM, DARS2, MRPS22, SUCLA2, SDHB, SLC25A12, IDH2, SCP2, NUBPL, HMGCL, NFU1, BOLA3, DGUOK, DNM1L, COQ9, FH, RRM2B, SLC25A4, HSPD1, NDUFS4, POLG, OCRL, GLB1, PSAP, CPS1, HSD17B4, ADSL, TWNK, ATP7B, ATP7A, TYROBP, PC Specificity 2 % Genes 15 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...) View the complete list with 202 more genes Panel GTR000561534 complete gene list DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3, PIGP, PPP2R1A, PIGQ, GABRB1, GABBR2, GAL, CLTC, CARS2, KCNH1, PLPBP, RORB, HCN2, GRIN2D, FRRS1L, CAD, NPRL2, NPRL3, NGLY1, GPHN, SLC12A5, GLRA1, DDX3X, CERS1, PIGG, PRDM8, COQ4, FGF12, ARV1, HIVEP2, UBA5, MDH2, KCNH5, C12orf57, NTRK2, PACS1, RANBP2, TPK1, IER3IP1, SATB2, DNMT3A, NAGA, MTOR, NEDD4L, NECAP1, CLCN4, ZDHHC9, ARID1B, EHMT1, DIAPH1, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, CACNA2D2, RBFOX1, MFSD8, DNAJC5, SRPX2, FLNA, RELN, QARS, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, KCNA1, CASR, SGCE, NF1, CACNA1A, SCN1A, CSTB, CLN5, SLC35A3, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, CBL, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, FARS2, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, ABAT, DHDDS, LIAS, MECP2, POLG, ADSL, PTEN, UBE3A Specificity 1 % Genes 8 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MAPKBP1, GANAB, SEC61A1, DZIP1L, DNAJB11, DICER1, MUC1, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19 , (...) View the complete list with 21 more genes Panel GTR000561677 complete gene list MAPKBP1, GANAB, SEC61A1, DZIP1L, DNAJB11, DICER1, MUC1, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, COL4A1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, JAG1, HNF1B, LRP5, INVS, VHL Specificity 3 % Genes 8 %
Porencephaly Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. COL4A2, COL4A1 Specificity 50 % Genes 8 %
Porencephaly Comprehensive panel. By Connective Tissue Gene Tests in United States. COL4A2, COL4A1 Specificity 50 % Genes 8 %
Porencephaly NGS panel. By Connective Tissue Gene Tests in United States. COL4A2, COL4A1 Specificity 50 % Genes 8 %
Porencephaly 1 Comprehensive Test. By Connective Tissue Gene Tests in United States. COL4A1 Specificity 100 % Genes 8 %
Porencephaly 1 NGS Test. By Connective Tissue Gene Tests in United States. COL4A1 Specificity 100 % Genes 8 %
Porencephaly 1 Deletion / Duplication Test. By Connective Tissue Gene Tests in United States. COL4A1 Specificity 100 % Genes 8 %
Cerebral small vessel disease Comprehensive panel. By Connective Tissue Gene Tests in United States. COL4A2, CTC1, HTRA1, TREX1, COL4A1, NOTCH3, GLA Specificity 15 % Genes 8 %
Cerebral small vessel disease Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. COL4A2, CTC1, HTRA1, TREX1, COL4A1, NOTCH3, GLA Specificity 15 % Genes 8 %
Cerebral small vessel disease NGS panel. By Connective Tissue Gene Tests in United States. COL4A2, CTC1, HTRA1, TREX1, COL4A1, NOTCH3, GLA Specificity 15 % Genes 8 %
Mental retardation - different panels. By Institute of Human Genetics Cologne University in Germany. EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...) View the complete list with 847 more genes Panel GTR000558415 complete gene list EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A, WAC, CNKSR1, HIST3H3, ASCC3, GPT2, TMEM135, RABL6, SLC25A16, HIKESHI, ZCCHC8, INPP4A, GEMIN4, FRMD4A, CASP2, CKAP2L, PECR, PGAP3, MEIS2, KDM6B, CCNA2, KRBOX4, ADRA2B, SCAPER, SLC39A6, GON4L, HIST1H4B, HNRNPK, APC2, GTF2E2, RSPRY1, SFXN4, RMND1, ITPA, SNX27, FASN, PPP2R1A, GABBR2, TCF20, TRIP12, DCPS, MYT1L, MED13L, TRIO, ELP2, ISCA2, JAM3, KDM1A, DDX59, DARS, USP27X, KLHL15, RLIM, KCNH1, CAD, NECTIN1, UPB1, UNC80, SC5D, FAR1, MFF, RNF113A, SMOC1, MAB21L2, HMGB3, CLP1, FTO, ERCC1, TMCO1, STT3A, STT3B, AIMP1, UBE3B, SSR4, GPHN, RBM28, PIGT, SLC12A5, HDAC4, COLEC11, IGF1, KAT6A, DDX3X, POGZ, PEX11B, COL4A2, DHFR, FAM126A, PEPD, CA5A, GTF2H5, MPLKIP, AP1S1, BUB1B, ZSWIM6, PIGG, CHAMP1, WDR73, SNX14, APOPT1, PET100, POLR3B, POLR3A, WDR81, XPA, PMPCA, COQ4, ERCC5, SCYL1, PTRH2, LAMA1, COL18A1, CACNA1G, ACY1, BCAP31, KMT2B, CLPB, SERAC1, SLC1A4, PPP1R15B, TBCE, TUBGCP6, ASXL3, TUBGCP4, PYCR2, POC1A, LARP7, PLK4, GMNN, ORC1, TCF12, MEGF8, DPH1, CA8, CC2D1A, ANK3, CTCF, GATAD2B, ADAT3, CRADD, FBXO31, FMN2, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CEP63, CEP135, CDK6, CENPE, MFSD2A, MED17, SLC25A1, LAMB1, MPDZ, CCDC88C, PTDSS1, PDE4D, SNAP29, ASNS, KIF2A, KIF5C, TUBG1, KATNB1, CDK5, FRAS1, DNMT3B, ESCO2, RTTN, TBC1D20, CEP83, ZNF423, ZBTB20, TRMT10A, HEPACAM, TBC1D7, RNF125, KPTN, CSPP1, PDE6D, CEP104, KIAA0556, SRCAP, AFF4, PRMT7, IFT172, AGPAT2, KCNJ6, OCLN, UBR1, MICU1, TCTN3, PGM3, PACS1, PIK3R1, EPG5, PRKRA, GSS, TPI1, LIG4, ERCC8, AKT3, PIK3R2, B3GLCT, RARB, STIM1, RAB27A, MYO5A, DHCR24, EIF2AK3, SLC6A3, DDC, EARS2, MAT1A, TMEM165, COG5, COG6, ALG11, COG4, MT-TV, COX10, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ERCC4, MASP1, AUTS2, KATNAL2, SATB2, SOX5, FANCD2, WNT1, GNAS, GNPAT, ASXL1, EFTUD2, RNASET2, EP300, THRB, DPP6, MT-CO3, MT-CO1, MT-ND5, MT-CO2, PGK1, CTDP1, KIF11, PRMT9, PPP2R5D, EXOSC2, FRY, RGS7, COL4A3BP, ADK, CCDC115, WDR45B, DIP2B, STAMBP, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, NT5C2, ENTPD1, PGAP1, IFIH1, MAG, HACE1, SMARCA2, ARID1A, SMARCB1, RRAS, RASA2, NSUN2, SPRED1, THOC2, CNKSR2, CCDC22, CLCN4, FRMPD4, EIF2S3, LAS1L, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, PHF8, CCBE1, NEU1, MVK, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX13, KIAA0586, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, LAMC3, MED12, MID1, ADNP, PTCHD1, FUCA1, NARS2, PEX6, PRPS1, MT-TS1, SOX10, DIAPH1, NLRP3, PNPT1, ERCC3, ERCC2, ATP6V1B2, ACTG1, ACTB, SALL1, SHANK2, SHANK3, ATP2A2, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, CACNA2D2, KMT2D, ATP13A2, KCNT1, HCN1, GRIN2B, SLC6A1, SLC35A2, SCN2A, ST3GAL5, KCTD7, GABRB3, ATP1A3, ATP1A2, ASPM, MCPH1, B3GALNT2, LARGE1, CHKB, POMGNT2, DPM2, LAMA2, GRM1, SIL1, ANO10, ISPD, POMT1, POMT2, DAG1, TRAPPC11, VRK1, DYNC1H1, CCDC78, SPART, KIF1A, WASHC5, BSCL2, SLC33A1, L1CAM, KCNJ11, FGFR1, NF1, GCH1, ATXN10, FKRP, AHI1, SCN1A, SPG11, MT-ATP6, MT-TK, ZFYVE26, MT-TL1, NTRK1, FIG4, TMEM216, DPYD, PHGDH, CLN5, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, TH, SLC35A3, PEX7, PPT1, FKTN, CLN8, CLN6, SMAD4, GPC3, PTCH1, NBN, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RMRP, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, DMPK, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, BLM, ARX, ASPA, FGFR3, PNP, MGME1, HPD, MOGS, DPAGT1, DOLK, AHCY, AGA, ABCD4, SDHA, PDHX, SLC6A8, FARS2, WWOX, PPOX, HESX1, CLN3, SMARCA4, KMT2A, SMARCE1, ARID2, ERCC6, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, FBXL4, EMC1, NKX2-1, SLC4A4, MAF, POC1B, MED25, AARS, DHTKD1, KDM6A, MAGEL2, ABCC9, GLI3, EZH2, NFIX, DNMT3A, ACVR1, SKI, TGFBR2, TGFBR1, DYM, NAGA, ATR, PCNT, CDK5RAP2, GLI2, CDON, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, EXOSC3, MTOR, NECAP1, TPP1, SOX2, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, MGAT2, LRPPRC, GALE, GALT, CBS, L2HGDH, SLC25A15, MLYCD, MAN2B1, MANBA, DBT, CYB5R3, MUT, MMAA, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, CA2, ACOX1, SLC35C1, ALDH3A2, ALDH5A1, SUOX, ABHD5, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, PUS1, D2HGDH, ALG3, STRA6, ETHE1, MPI, ALG6, GAD1, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, DNAJC19, HAX1, TUSC3, DARS2, COG8, COG1, TUBA1A, MRPS22, RFT1, COQ8A, STXBP1, SDHB, AK1, GATM, GAMT, PGM1, DPM3, NUBPL, TAT, CCDC28B, ACSF3, DNM1L, ALDH18A1, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, MECP2, SMPD1, FH, RAF1, PANK2, NDUFS4, DLD, SHH, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, NHS, HPRT1, OTX2, NDP, ELOVL4, OCRL, HSD17B10, SRD5A3, ATP6V0A2, PRODH, CC2D2A, PYCR1, MTRR, INPP5E, MTR, PAX6, PRKCG, MMACHC, ADSL, C12orf65, MFSD8, DNAJC5, CTSF, TUBB2B, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, MBD5, GRIN2A, GABRA1, CHD2, KCNQ3, KCNQ2, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATP7A, HLCS, ANKH, PC, ACAD9, MCCC2, MCCC1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 86 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Cologne University in Germany. CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...) View the complete list with 391 more genes Panel GTR000558419 complete gene list CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1, FAN1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAMA5, TRAP1, UPK3A, AGTR1, CFHR2, TBX18, KANK1, ALAD, EHHADH, ANLN, BICC1, ROBO2, MAFB, ARHGDIA, AGT, SOX17, EGF, CNNM2, TALDO1, HPSE2, LYZ, IL21, NFKB1, GUCY2C, DIS3L2, LRIG2, SLC26A3, HMBS, TRPM6, KL, UROD, SLC5A2, FXYD2, SLC7A9, GANAB, SEC61A1, PEX11B, SEC63, SLC2A9, EIF2AK4, LIFR, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, GALNT3, MYO1E, KANK2, LAMC1, WDR73, APOPT1, COA5, SLC6A19, SERAC1, DICER1, DMP1, SLC34A3, CLCN5, ENPP1, GCM2, STX16, LRP2, REN, MUC1, CRB2, CFHR4, LRP4, WDR60, NEK1, FRAS1, CCNQ, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, CEP120, CEP104, KIAA0556, IFT172, IFT74, TCTN3, NOTCH2, MS4A1, PRKCSH, TNFRSF13C, ICOS, HOGA1, CD81, CR2, CD19, SMARCAL1, NFKB2, ITGA3, LRBA, RBM8A, ATP6V0A4, SLC4A1, COQ8B, TNFRSF13B, IKZF1, BMP4, FREM1, VPS33B, FGA, EIF2AK3, GLIS3, SLC2A2, LCAT, B9D2, GREM1, APOA1, PCBD1, IFT122, COX10, PIK3CA, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, CDKN1B, APOL1, ADAMTS13, DGKE, CFHR3, CFHR1, CFI, CFB, CD2AP, JAK3, SALL4, ACE, MEFV, PGK1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, POC1B, KCNJ5, TNXB, MAGT1, AGTR2, PTH1R, SOX18, MVK, CLCNKA, WDR35, KAT6B, PEX5, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, TMEM231, PEX6, FGF20, ITGA8, PTPRO, EMP2, WDR34, CHRM3, SLC16A12, MYH9, GATA3, SIX1, PRPS1, SIX5, DCDC2, CACNA1D, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, TBC1D24, SCARB2, CACNA1H, KCNA1, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, SLC12A3, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, NF1, ATXN10, AHI1, WNK1, TMEM216, PKHD1, PEX1, MPL, GRHPR, SLC7A7, PEX7, NPHS1, NPHS2, PEX2, CTNS, COL4A3, RAD51C, CDC73, PRKAR1A, SBDS, MAX, MET, FLCN, SDHD, NF2, TSC1, TSC2, VDR, NPC1, HRAS, GLA, DHCR7, APRT, ABCD4, SDHA, TACO1, PAX2, MEN1, LMX1B, TMEM127, CYP17A1, ALMS1, ASL, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC22A5, ASS1, SLC3A1, COX6B1, FASTKD2, GALT, GCDH, ETFDH, ETFA, ETFB, PYGM, CBS, SUCLG1, MUT, MMAA, MMAB, CA2, AGXT, CUBN, PGAM2, LMBRD1, MMADHC, XDH, OTC, STRA6, PCCA, PCCB, COQ2, ALG8, HADHB, IQCB1, SUCLA2, SLC9A3R1, SDHB, CYP24A1, G6PC, XPNPEP3, CCDC28B, HMGCL, FAH, SARS2, COQ6, PDSS2, CYP11B2, FH, HADHA, SDHC, SLC25A13, RRM2B, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NR3C2, GNAS, THBD, C3, CD46, CFHR5, CFH, HPRT1, JAG1, OCRL, CC2D2A, GLB1, CPS1, INPP5E, RET, HNF1B, SDHAF2, PAX6, WT1, SLC34A1, LRP5, EYA1, MMACHC, HNF1A, INVS, BCS1L, AUH, ATP7B, ARG1, ACAT1, VHL Specificity 1 % Genes 8 %
Cataract. By MGZ Medical Genetics Center in Germany. TMEM114, JAM3, MIR184, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, CRYAA , (...) View the complete list with 45 more genes Panel GTR000521132 complete gene list TMEM114, JAM3, MIR184, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, COL4A2, FAM126A, ERCC5, COL18A1, TBC1D20, EPG5, CRYBA4, VSX2, RAB18, FTL, CTDP1, RAB3GAP2, ERCC6, LTBP2, FOXE3, MAF, MYH9, COL11A1, ERCC2, RAB3GAP1, COL4A1, SIL1, SLC33A1, GLA, SIX6, CYP27A1, GALK1, GJA3, FYCO1, OPA3, CRYAB, NHS, PITX2, FOXC1, WFS1, ABCB6, PAX6, COL2A1, EYA1 Specificity 2 % Genes 8 %
COL4A1-Related Disorders. By MGZ Medical Genetics Center in Germany. COL4A1 Specificity 100 % Genes 8 %
Pulmonary diseases - panels. By MGZ Medical Genetics Center in Germany. TBX4, DVL1, COL4A2, EIF2AK4, NOTCH2, DNAI1, BMPR2, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, DNAAF3, SMAD9, CAV1, KCNK3, DNAAF4 , (...) View the complete list with 11 more genes Panel GTR000552432 complete gene list TBX4, DVL1, COL4A2, EIF2AK4, NOTCH2, DNAI1, BMPR2, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, DNAAF3, SMAD9, CAV1, KCNK3, DNAAF4, CCNO, BMPR1B, ACVRL1, NOTCH1, COL4A1, CAV3, NOTCH3, ENG, CFTR, SARS2, ELN Specificity 4 % Genes 8 %
Eye Diseases - panels. By MGZ Medical Genetics Center in Germany. OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1 , (...) View the complete list with 147 more genes Panel GTR000552433 complete gene list OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, ATOH7, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, ASPH, COL4A2, ADAMTS10, FAM126A, ADAMTSL4, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ERCC5, COL18A1, C12orf57, LRP2, FRAS1, FREM2, GRIP1, TBC1D20, EPG5, COL17A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RARB, RAB18, FTL, GJA1, CTDP1, RAB3GAP2, ERCC6, LTBP2, FOXE3, MAF, CHST6, LRMDA, SLC24A5, GDF6, ZNF469, PRDM5, ZIC2, TGIF1, TFAP2A, MYH9, SLC4A11, COL11A2, COL11A1, COL9A2, ERCC2, COL9A3, COL9A1, ACTG1, ACTB, VPS13B, TREX1, TUBB2B, SIX3, RAB3GAP1, COL4A1, SIL1, SLC33A1, ADAMTS2, GLA, CHD7, GSN, PAX2, KRT3, COL5A2, COL5A1, FZD4, KIF21A, MYOC, HESX1, SOX2, CYP4V2, SIX6, CYP27A1, GALK1, CBS, BCOR, HCCS, FRMD7, STRA6, GJA3, PHOX2A, TMEM126A, FYCO1, MTPAP, FBN1, OPA3, CRYAB, MFN2, SHH, NHS, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, OCRL, WFS1, ABCB6, OPA1, GPR143, TYR, TUBB3, TGFBI, ZEB1, PAX6, SLC45A2, VSX1, OCA2, COL3A1, COL2A1, LRP5, EYA1, TYRP1, RAX, FOXL2, C12orf65 Specificity 1 % Genes 8 %
Vascular and connective tissue diseases - panels. By MGZ Medical Genetics Center in Germany. JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469 , (...) View the complete list with 47 more genes Panel GTR000552434 complete gene list JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, AFF2, AGTR2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, AGRN, NOTCH3, ADAMTS2, ENG, PLOD1, GLA, COL5A2, COL5A1, CBS, AIFM1, OTC, COQ8A, SLC39A13, AGK, FBN1, AFG3L2, POLG, AMACR, COL3A1, COL1A2, COL1A1, ADSL, B4GALT7, AGL, TTR Specificity 2 % Genes 8 %
Neurogenetic Disorders - panels. By MGZ Medical Genetics Center in Germany. PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...) View the complete list with 577 more genes Panel GTR000552437 complete gene list PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2, TRMT5, PARS2, MRPS7, MRPL44, NDUFB11, COQ7, IARS2, GTPBP3, COX8A, ARHGEF15, FLAD1, ISCA2, LYRM7, ARSI, USP8, WDR48, ZFR, NDUFB9, ATP2B4, CARS2, CAD, LARS, ATP5F1A, NPRL3, CACNA1B, EXOSC8, CLP1, AIMP1, UQCRC2, TALDO1, GPHN, PDE8B, SLC52A3, LMNB1, DGAT2, STUB1, SLC6A19, RNF216, RNASEH1, PTRH2, PIK3R5, NOL3, GRID2, SLC52A2, CACNA1G, ATP8A2, RARS, AAAS, ACY1, SLC30A10, ADCY5, GNAL, ECHS1, KCTD17, HPCA, ANO3, UBA5, CLPB, SERAC1, PDGFB, SLC1A4, PYCR2, SEPSECS, AMPD2, XRCC4, KCNH5, GRIK2, ARL6IP1, IBA57, ALG14, LRP4, PREPL, DNAJC3, HEPACAM, MICU1, SLC25A46, EPG5, PRKRA, RANBP2, XK, COQ8B, VPS35, EIF2AK3, ABCA1, APOB, HADH, SLC6A3, MR1, EARS2, FBXO7, TPK1, PRNP, CSF1R, SCO1, COX10, MARS2, DCAF17, COASY, CP, FTL, NBAS, GJA1, CCT5, RNASET2, ACTG2, FDX2, STAMBP, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, CPT1C, MAG, REEP2, ERLIN1, MYBPC1, GMPPB, TOR1AIP1, HNRNPDL, DNA2, FBXL4, NKX2-1, TBK1, LYST, GAN, TFG, MARS, TUBB2A, EXOSC3, CLCN2, CLCN4, SLC16A2, TAF1, LAMP2, HCFC1, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CHD8, CACNA1C, FUCA1, NARS2, PEX6, LARS2, SLC19A2, SOX10, DNMT1, NLRP3, PNPT1, POLR1C, CLPP, VPS13A, GFAP, TREX1, KDM5C, ARHGEF9, RNASEH2B, RNASEH2C, RNASEH2A, KCNJ10, SAMHD1, PNKP, TSEN54, RELN, QARS, COL4A1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, ATP1A2, COL6A3, CHKB, DPM2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, ANO10, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SYNE1, BICD2, MTM1, UBQLN2, TARDBP, CHMP2B, SETX, RYR1, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, CASR, SNCA, SGCE, LRRK2, GCH1, THAP1, TOR1A, CACNA1A, PPP2R2B, NOTCH3, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, DNM2, GDAP1, RAPSN, PLA2G6, PHGDH, CIZ1, SLC6A5, GLRA1, GLRB, NOP56, COL4A2, FAM126A, RETREG1, PSAT1, SNX14, APOPT1, CHCHD10, PRDM8, POLR3B, POLR3A, TRNT1, PMPCA, RUBCN, COQ4, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, TH, SACS, PEX7, PPT1, PEX2, MTTP, DOK7, CLN8, CLN6, CHRNE, SDHD, MRE11, ATM, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, GBA, ARX, ASPA, ARSA, MGME1, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PNKD, WWOX, KIF21A, CLN3, TPP1, SLC25A38, ASL, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, SLC25A15, IVD, GALC, DLAT, SUCLG1, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, ACOX1, ALDH7A1, PHYH, HEXB, ALDH3A2, HEXA, ABHD5, ABCD1, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, OTC, PUS1, SQSTM1, ETHE1, TYMP, GAD1, SCO2, GLDC, PINK1, PCCA, PCCB, PARK7, SPG7, COQ2, NDUFA13, GRN, ALG2, PDP1, GFM1, SLC25A22, TK2, POLG2, DNAJC19, REEP1, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, STXBP1, SDHB, COX4I2, SPR, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, SLC13A5, SNAP25, SIK1, EEF1A2, SPATA5, HNRNPU, ATP13A2, GAMT, SLC25A12, TMEM126A, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, ALDH18A1, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, MECP2, VCP, OPA3, PANK2, SDHC, MFN2, ALAS2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, ELOVL4, PSAP, WFS1, TRMU, OPA1, CPT2, CPS1, HSD17B4, AMACR, SDHAF2, TUBB3, PSEN1, APP, PRKCG, MMACHC, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, ATP5F1E, UQCRB, ARG1, UQCRQ, PC, YARS2, ACADVL, AGL, ACADS, ACADM, ACAD9, ABHD12, AARS2, UBE3A, TTR, MTHFR Specificity 1 % Genes 8 %
Brain Malformations / Neuronal Migration Disorders. By MGZ Medical Genetics Center in Germany. NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...) View the complete list with 246 more genes Panel GTR000521067 complete gene list NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1, CCND2, HEPACAM, TBC1D7, KPTN, OCLN, ADA2, TDGF1, XK, AKT1, AKT3, PIK3R2, GNAQ, DISP1, PIK3CA, EOMES, KIF7, DCAF17, CP, FTL, PGK1, ADAR, TUBB4A, C19orf12, SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, MYBPC1, HNRNPDL, KDM6A, GPSM2, GLI3, RNF135, EZH2, NFIX, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, TUBB2A, EXOSC3, THOC2, CLCN4, ZMYM3, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NEU1, NLGN3, NLGN4X, ARID1B, CHD8, AP1S2, EHMT1, MED12, MID1, PTCHD1, HTRA1, VPS13A, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, DYRK1A, NRXN1, SCN8A, WDR45, NEXMIF, EEF1A2, SETD2, ATP13A2, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, QARS, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ASPM, CACNB4, FA2H, L1CAM, CASR, FGF8, SGCE, NOTCH3, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, EIF2B5, CLN5, MLC1, PPT1, DOK7, CLN6, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, WDR62, SLC2A1, PORCN, PCDH19, MEF2C, IDS, FOXG1, CHD7, CDKL5, ELP1, ARX, ASPA, FGFR3, CLN3, TPP1, CYP27A1, GALC, SGSH, HGSNAT, ALDH7A1, SLC9A6, ACSL4, MAOA, GK, GLDC, SLC25A22, TUBA1A, STXBP1, GAMT, MECP2, FH, PANK2, HPRT1, HSD17B10, TUBB3, APP, PTEN, UBE3A, FMR1 Specificity 1 % Genes 8 %
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 8 %
Collagen Type IV-Associated Disorders and Phenocopies. By MGZ Medical Genetics Center in Germany. JAM3, COL4A2, COL4A1 Specificity 34 % Genes 8 %
Teenager Stroke / Stroke-Like Episodes. By MGZ Medical Genetics Center in Germany. COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1 , (...) View the complete list with 1 more genes Panel GTR000521118 complete gene list COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1, TTR Specificity 5 % Genes 8 %
Porencephaly, familial. By Centogene AG - the Rare Disease Company in Germany. COL4A1 Specificity 100 % Genes 8 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2 Specificity 1 % Genes 79 %
COL4A1. By Amplexa Genetics Amplexa Genetics A/S in Denmark. COL4A1 Specificity 100 % Genes 8 %
Neuronal Migration Disorders Panel. By CeGaT GmbH in Germany. DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...) View the complete list with 30 more genes Panel GTR000522375 complete gene list DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, EMX2, DCX, ARFGEF2, COL4A1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, MEF2C, ARX, TUBA1A, FH, TUBB3 Specificity 26 % Genes 93 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm. By CeGaT GmbH in Germany. DSE, RIN2, B3GALT6, MAT2A, GORAB, MFAP5, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...) View the complete list with 24 more genes Panel GTR000522392 complete gene list DSE, RIN2, B3GALT6, MAT2A, GORAB, MFAP5, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, COL4A1, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, ALDH18A1, FBN1, ATP6V0A2, PYCR1, ELN, COL3A1, COL1A2, COL1A1, FBLN5, B4GALT7, ATP7A Specificity 3 % Genes 8 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm. By CeGaT GmbH in Germany. DSE, RIN2, B3GALT6, MAT2A, GORAB, MFAP5, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...) View the complete list with 24 more genes Panel GTR000522401 complete gene list DSE, RIN2, B3GALT6, MAT2A, GORAB, MFAP5, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, COL4A1, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, ALDH18A1, FBN1, ATP6V0A2, PYCR1, ELN, COL3A1, COL1A2, COL1A1, FBLN5, B4GALT7, ATP7A Specificity 3 % Genes 8 %
Neuronal Migration Disorders Panel. By CeGaT GmbH in Germany. DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...) View the complete list with 30 more genes Panel GTR000522412 complete gene list DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, EMX2, DCX, ARFGEF2, COL4A1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, MEF2C, ARX, TUBA1A, FH, TUBB3 Specificity 26 % Genes 93 %
Walker-Warburg Syndrome Panel. By CeGaT GmbH in Germany. GMPPB, POMK, COL4A1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, ISPD, POMT1, POMT2, DAG1, FKRP, POMGNT1, FKTN Specificity 94 % Genes 100 %
Basal ganglia calcification Panel. By CeGaT GmbH in Germany. XPR1, PDGFB, PDGFRB, TBCE, ERCC8, SLC20A2, TREM2, CTC1, ADAR, IFIH1, ERCC6, GATA3, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, FOLR1 , (...) View the complete list with 7 more genes Panel GTR000522491 complete gene list XPR1, PDGFB, PDGFRB, TBCE, ERCC8, SLC20A2, TREM2, CTC1, ADAR, IFIH1, ERCC6, GATA3, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, FOLR1, BRAF, AIRE, GALC, CA2, PANK2, POLG, TYROBP Specificity 4 % Genes 8 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel. By CeGaT GmbH in Germany. TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM , (...) View the complete list with 155 more genes Panel GTR000522492 complete gene list TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM, OCLN, STXBP2, STX11, UNC13D, ERCC8, EARS2, TREM2, CSF1R, COX10, CTC1, RNASET2, AP4E1, ADAR, DDHD2, TUBB4A, IFIH1, ERCC6, GMPPB, GAN, AARS, CLCN2, SLC16A2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, SOX10, POLR1C, ERCC3, ERCC2, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, KCNT1, FOLR1, LARGE1, LAMA2, POMT1, POMT2, SPG21, SPART, FA2H, CYP7B1, FKRP, NOTCH3, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, PLA2G6, PHGDH, EIF2B5, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PEX2, FKTN, PRF1, PLP1, NPC2, NPC1, IDS, GLA, GJC2, EIF2B1, ASPA, ARSA, AGA, SDHA, MTFMT, FARS2, TACO1, CYP27A1, COX6B1, LRPPRC, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, GALC, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA1, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, APOPT1, PET100, NDUFA2, MPV17, ACOX1, PHYH, ALDH3A2, HEXA, ABCD1, D2HGDH, TYMP, SCO2, GFM1, TUFM, DARS2, SUCLA2, SLC25A12, SCP2, NUBPL, TTC19, HMGCL, NDUFAF1, TMEM70, NDUFA9, NDUFA12, NDUFAF2, FOXRED1, HSPD1, NDUFS4, POLG, OCRL, GLB1, PSAP, HSD17B4, MMACHC, C12orf65, BCS1L, AUH, ATP7B, ATP7A, TYROBP, PC, AARS2 Specificity 4 % Genes 50 %
Small vessel disease Panel. By CeGaT GmbH in Germany. CTC1, HTRA1, TREX1, COL4A1, NOTCH3, GLA Specificity 17 % Genes 8 %
Single gene testing COL4A1. By CeGaT GmbH in Germany. COL4A1 Specificity 100 % Genes 8 %
Cerebral small vessel disease. By Laboratory of Human Genetics GENOMED Health Care Center in Poland. COL4A2, HTRA1, TREX1, COL4A1, NOTCH3, GLA Specificity 17 % Genes 8 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis. By Asper Biogene Asper Biogene LLC in Estonia. SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1 , (...) View the complete list with 15 more genes Panel GTR000553195 complete gene list SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1, SOX2, SIX6, BCOR, HCCS, STRA6, CYP1B1, OTX2, MFRP, PITX2, FOXC1, ABCB6, PAX6, VSX1, EYA1, RAX Specificity 3 % Genes 8 %
Eye diseases comprehensive panel. By Asper Biogene Asper Biogene LLC in Estonia. ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...) View the complete list with 255 more genes Panel GTR000553865 complete gene list ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ITM2B, LAMA1, FRAS1, FREM2, GRIP1, B3GLCT, PRSS56, GDF3, BMP4, CRYBA4, VSX2, FREM1, VAX1, ARL13B, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, FTL, GJA1, CFH, CTDP1, KIF11, C19orf12, SDCCAG8, WDPCP, LZTFL1, WDR19, RBP4, CHST6, CDH3, IFT140, GDF6, GPR179, CNNM4, PDE6H, RAX2, RAB28, UNC119, GNPTG, ZNF469, ABCC6, PRDM5, NAA10, MVK, SLC4A11, COL11A2, COL11A1, COL9A2, GIPC3, COL9A1, CIB2, VPS13B, TREX1, OFD1, MFSD8, COL4A1, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, GSN, TEAD1, PAX2, KRT3, KRT12, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, SIX6, CNGA3, GALK1, GALT, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GJA3, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, GFER, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, FYCO1, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, AGK, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, CRYAB, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, CC2D2A, WFS1, ABCB6, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, TGFBI, CHM, ZEB1, PAX6, SLC45A2, VSX1, COL2A1, LRP5, TYRP1, SPATA7, OPN1MW, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 8 %
Porencephaly gene panel. By Connective Tissue Laboratory Ghent University Hospital in Belgium. COL4A2, COL4A1 Specificity 50 % Genes 8 %
COL4A1 mutational analysis. By Connective Tissue Laboratory Ghent University Hospital in Belgium. COL4A1 Specificity 100 % Genes 8 %
Developmental Eye Disease panel. By Molecular Vision Laboratory in United States. DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1 , (...) View the complete list with 39 more genes Panel GTR000521504 complete gene list DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, RAB18, RAB3GAP2, FOXE3, GDF6, NAA10, SOX3, FOXC2, ZEB2, CASK, SIX3, RAB3GAP1, COL4A1, LARGE1, ISPD, POMT1, POMT2, LAMB2, FKRP, FKTN, CHD7, PAX2, HESX1, SOX2, SIX6, BCOR, STRA6, CRX, SHH, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, ABCB6, PITX3, PAX6, RAX Specificity 12 % Genes 50 %
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome: COL4A1 gene sequence analysis (exons 24, 25). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COL4A1 Specificity 100 % Genes 8 %
Brain small-vessel disease with Hemorrhage: COL4A1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COL4A1 Specificity 100 % Genes 8 %
Congenital disorder of O-linked glycosylation (CDG). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. XYLT1, KL, SLC35D1, GALNT3, DLL3, CHST3, LFNG, HES7, MESP2, EXT1, EXT2, B3GLCT, B3GALT6, B3GAT3, CHST14, CHSY1, COL4A1, LARGE1, POMGNT2, B4GAT1 , (...) View the complete list with 9 more genes Panel GTR000531638 complete gene list XYLT1, KL, SLC35D1, GALNT3, DLL3, CHST3, LFNG, HES7, MESP2, EXT1, EXT2, B3GLCT, B3GALT6, B3GAT3, CHST14, CHSY1, COL4A1, LARGE1, POMGNT2, B4GAT1, ISPD, POMT1, POMT2, FGF23, FKRP, POMGNT1, FKTN, KRT5, B4GALT7 Specificity 35 % Genes 72 %
DYSTROGLYCANOPATHY. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COL4A1, LARGE1, B4GAT1, ISPD, POMT1, POMT2, DAG1, FKRP, POMGNT1, FKTN, DPM3 Specificity 91 % Genes 72 %
COL4A1 - Gene sequencing. By Genome Diagnostics VU University Medical Center in Netherlands. COL4A1 Specificity 100 % Genes 8 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...) View the complete list with 3 more genes Panel GTR000512371 complete gene list SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, PITX3, PAX6 Specificity 5 % Genes 8 %
Eye Disorders: Comprehensive Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...) View the complete list with 190 more genes Panel GTR000512373 complete gene list SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, LRMDA, SLC24A5, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, ATP13A2, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CYP27A1, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 8 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...) View the complete list with 3 more genes Panel GTR000558531 complete gene list SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, PITX3, PAX6 Specificity 5 % Genes 8 %
Eye Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...) View the complete list with 187 more genes Panel GTR000559618 complete gene list SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 8 %
Connective Tissue NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ACVR1, ZNF469, ABCC6, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, COL4A1, PKD2, ADAMTS2, PLOD1, COL5A2 , (...) View the complete list with 11 more genes Panel GTR000509372 complete gene list ACVR1, ZNF469, ABCC6, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, COL4A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ATP6V0A2, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5 Specificity 4 % Genes 8 %
Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...) View the complete list with 323 more genes Panel GTR000509399 complete gene list EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, VANGL1, CLCN2, CCL2, SPRED1, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, FUCA1, PEX6, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, GRIN1, NRXN1, SCN8A, MAGI2, KMT2D, MFSD8, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, TBC1D24, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, HCN1, GRIN2B, GABRD, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, VRK1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, GPC3, PTCH1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, TACO1, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, ABAT, TMEM70, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, CPT2, PAX6, ADSL, C12orf65, BCS1L, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 3 % Genes 50 %
Hemiplegia/Stroke NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. COL4A2, COL4A1, ATP1A3, ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, OTC, POLG Specificity 10 % Genes 8 %
COL4A1. By Fulgent Genetics Fulgent Genetics in United States. COL4A1 Specificity 100 % Genes 8 %
Comprehensive Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...) View the complete list with 427 more genes Panel GTR000531707 complete gene list RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5, HDAC4, SLC6A5, GLRA1, GLRB, DHFR, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, KCNH5, C12orf57, ANK3, MED17, CCDC88C, SNAP29, ASNS, LIG4, NHEJ1, AKT3, SLC46A1, COX10, ARL13B, RPGRIP1L, PGK1, ADAR, SMARCA2, KDM6A, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, SPRED1, CLCN4, UBE2A, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, MED12, NTNG1, FUCA1, PEX6, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, DPM2, LAMA2, SLC1A3, CACNB4, KCNA1, POMT1, POMT2, VRK1, DYNC1H1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, HNRNPH1, KCNAB2, GPC3, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, DHCR7, CHRNA7, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, SLC6A8, FARS2, TACO1, WWOX, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, GLUD1, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, SLC25A12, ABAT, TMEM70, BOLA3, LIAS, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, ME2, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, MAGI2, CACNA2D2, RBFOX1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PSAP, CPT2, AMACR, PAX6, ADSL, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 2 % Genes 50 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa in United States. FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...) View the complete list with 232 more genes Panel GTR000528276 complete gene list FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1, ITGA8, PTPRO, EMP2, PBX1, ROBO2, ARHGDIA, SOX17, EGF, CNNM2, LYZ, TRPM6, SLC5A1, SLC5A2, FXYD2, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, MYO1E, GDNF, B2M, WDR73, SRGAP1, DMP1, SLC34A3, CLCN5, ENPP1, CRB2, NEK1, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, KIF14, TMEM107, IFT172, IFT74, C2CD3, TCTN3, NOTCH2, HOGA1, SMARCAL1, TNFRSF1A, ITGB4, ITGA3, ATP6V0A4, SLC4A1, COQ8B, BMP4, FREM1, VIPAS39, VPS33B, FGA, SLC2A2, B9D2, GREM1, APOA1, IFT122, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, APOL1, DGKE, NR3C2, CFI, CD2AP, SALL4, MEFV, ZMPSTE24, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, DHTKD1, KCNJ5, GLI3, TNXB, CLCNKA, WDR35, FOXP1, SEMA3E, MYH9, GATA3, SIX1, SIX5, NLRP3, COL4A6, CACNA1D, CD151, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, SCARB2, CACNA1H, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, FGFR1, ATXN10, AHI1, APOE, WNK1, LMNA, TMEM216, PKHD1, SLC17A5, GRHPR, NPHS1, NPHS2, CTNS, COL4A3, GPC3, DLG1, SLIT2, KIF12, DLC1, E2F3, DACH1, SLC41A1, MAGED2, ADCY10, TSC1, TSC2, VDR, GLA, DHCR7, CREBBP, CHD7, APRT, GSN, PAX2, LMX1B, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC3A1, CA2, AGXT, CUBN, XDH, COQ2, ALG1, IQCB1, SLC9A3R1, CYP24A1, XPNPEP3, FAH, SARS2, C8orf37, COQ6, PDSS2, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, HPRT1, JAG1, OCRL, CC2D2A, INPP5E, RET, HNF1B, WT1, SLC34A1, EYA1, INVS, ATP7B, VHL, TTR Specificity 1 % Genes 8 %
Cystic Kidney Disease Panel. By Blueprint Genetics in Finland. MAPKBP1, GANAB, SEC61A1, DZIP1L, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, SIX5, DCDC2, OFD1 , (...) View the complete list with 20 more genes Panel GTR000552730 complete gene list MAPKBP1, GANAB, SEC61A1, DZIP1L, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, SIX5, DCDC2, OFD1, COL4A1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, JAG1, HNF1B, LRP5, EYA1, INVS, VHL Specificity 3 % Genes 8 %
Collagen Type VI-Related Disorders Panel. By Blueprint Genetics in Finland. COL4A2, COL12A1, COL4A1, COL6A1, COL6A3, COL6A2 Specificity 17 % Genes 8 %
LGMD and Congenital Muscular Dystrophy Panel. By Blueprint Genetics in Finland. VMA21, COL4A2, POGLUT1, GMPPB, SPEG, TOR1AIP1, TNPO3, LIMS2, COL4A1, ITGA7, B3GALNT2, LARGE1, POMGNT2, LAMA2, SMCHD1, ISPD, SGCD, TCAP, POMT1, DNAJB6 , (...) View the complete list with 22 more genes Panel GTR000552811 complete gene list VMA21, COL4A2, POGLUT1, GMPPB, SPEG, TOR1AIP1, TNPO3, LIMS2, COL4A1, ITGA7, B3GALNT2, LARGE1, POMGNT2, LAMA2, SMCHD1, ISPD, SGCD, TCAP, POMT1, DNAJB6, TRAPPC11, SYNE1, MEGF10, SELENON, MYOT, ANO5, MYH7, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, DMD, PNPLA2, CRYAB, TRIM32 Specificity 20 % Genes 58 %
Comprehensive Muscular Dystrophy / Myopathy Panel. By Blueprint Genetics in Finland. TMEM126B, VMA21, COL4A2, RBCK1, POGLUT1, MICU1, GMPPB, LMOD3, SPEG, TOR1AIP1, TNPO3, LIMS2, KLHL41, COL12A1, MME, VPS13A, COL4A1, ITGA7, B3GALNT2, COL6A1 , (...) View the complete list with 53 more genes Panel GTR000552812 complete gene list TMEM126B, VMA21, COL4A2, RBCK1, POGLUT1, MICU1, GMPPB, LMOD3, SPEG, TOR1AIP1, TNPO3, LIMS2, KLHL41, COL12A1, MME, VPS13A, COL4A1, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SMCHD1, ISPD, SGCD, TCAP, POMT1, DNAJB6, TRAPPC11, EMD, TMEM43, SYNE1, MTM1, TNNT1, TPM2, CFL2, KBTBD13, MEGF10, ACTA1, TPM3, KLHL40, SELENON, FHL1, BAG3, ATP2A1, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, FKRP, PABPN1, LMNA, CAPN3, SGCG, SGCB, SGCA, NEB, FKTN, DMD, SEPT9, PNPLA2, CRYAB, POLG, TRIM32, GAA Specificity 11 % Genes 58 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel. By Blueprint Genetics in Finland. COX7B, BMP7, HMX1, SLC38A8, ADAMTS18, SMOC1, MAB21L2, PXDN, ERCC5, FRAS1, FREM2, GRIP1, ALDH1A3, TENM3, PRSS56, BMP4, VSX2, FREM1, RARB, GJA1 , (...) View the complete list with 34 more genes Panel GTR000552747 complete gene list COX7B, BMP7, HMX1, SLC38A8, ADAMTS18, SMOC1, MAB21L2, PXDN, ERCC5, FRAS1, FREM2, GRIP1, ALDH1A3, TENM3, PRSS56, BMP4, VSX2, FREM1, RARB, GJA1, ERCC6, RBP4, FOXE3, MITF, ZIC2, NAA10, TFAP2A, ERCC2, VPS13B, SIX3, RAB3GAP1, PQBP1, COL4A1, SMCHD1, CHD7, PAX2, HESX1, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, OCRL, ABCB6, PAX6, RAX, FOXL2 Specificity 2 % Genes 8 %
Leukodystrophy and Leukoencephalopathy Panel. By Blueprint Genetics in Finland. SNORD118, MRPL44, LYRM7, DARS, AIMP1, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RNF216, RARS, SERAC1, PYCR2, IBA57, HEPACAM, EARS2, CSF1R, SCO1, MARS2 , (...) View the complete list with 54 more genes Panel GTR000552764 complete gene list SNORD118, MRPL44, LYRM7, DARS, AIMP1, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RNF216, RARS, SERAC1, PYCR2, IBA57, HEPACAM, EARS2, CSF1R, SCO1, MARS2, CTC1, RNASET2, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, TUBB4A, CLCN2, SOX10, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, FOLR1, FA2H, NOTCH3, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, EIF2B5, SUMF1, MLC1, PLP1, GJC2, EIF2B1, ASPA, ARSA, MTFMT, CYP27A1, COX6B1, L2HGDH, GALC, HIBCH, NDUFAF5, SDHAF1, COX15, ALDH3A2, ABCD1, AIFM1, D2HGDH, GFM1, DARS2, NUBPL, TTC19, NFU1, FOXRED1, HSPD1, PSAP Specificity 2 % Genes 8 %
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 8 %
Comprehensive Epilepsy Panel. By Blueprint Genetics in Finland. SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...) View the complete list with 263 more genes Panel GTR000552774 complete gene list SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT, SLC12A5, GLRB, DHFR, FAM126A, CERS1, APOPT1, POLR3B, POLR3A, LMNB1, FGF12, RNF216, RARS, ECHS1, GNB1, UBA5, TBCD, SERAC1, TBCE, PYCR2, CC2D1A, GRIK2, SLC25A1, IBA57, ASNS, HEPACAM, DDC, EARS2, SLC46A1, CSF1R, SCO1, MARS2, CTC1, RNASET2, PGK1, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, TUBB4A, HACE1, MTOR, CLCN2, NECAP1, CLCN4, TAF1, UBE2A, NEU1, MED12, SOX10, HTRA1, VPS13A, GFAP, TREX1, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, ARHGEF9, GRIA3, PHF6, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, PIGN, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, HNRNPU, MAGI2, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, RELN, DCX, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, CACNB4, KCNA1, FA2H, KIF1A, CASR, GCH1, CACNA1A, NOTCH3, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, DPYD, EIF2B5, CLN5, SUMF1, MLC1, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PLP1, PCDH19, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, ARX, ASPA, ARSA, AGA, MTFMT, SLC6A8, FARS2, WWOX, CLN3, TPP1, CYP27A1, COX6B1, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, GALC, HIBCH, NDUFAF5, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, COX15, QDPR, PTS, ALDH7A1, ALDH3A2, ALDH5A1, SUOX, ABCD1, SLC9A6, AIFM1, D2HGDH, ETHE1, AMT, GLDC, GRN, GFM1, SLC25A22, CTSD, DARS2, STXBP1, GAMT, ABAT, NUBPL, TTC19, NFU1, DNM1L, MECP2, FH, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, HSD17B10, GNE, PRODH, GLB1, PSAP, CPT2, AMACR, ADSL, BTD, ARG1, UBE3A, MTHFR, HTT Specificity 1 % Genes 8 %
Cataract Panel. By Blueprint Genetics in Finland. ADAMTS18, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3 , (...) View the complete list with 49 more genes Panel GTR000552775 complete gene list ADAMTS18, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, FAM126A, ADAMTSL4, ERCC5, COL18A1, WRN, ERCC8, CRYBA4, VSX2, FTL, GJA1, CTDP1, ERCC6, FOXE3, MAF, TFAP2A, MYH9, COL11A1, ERCC2, RAB3GAP1, COL4A1, SIL1, SLC33A1, NF2, FZD4, CYP27A1, GALK1, GALE, GALT, BCOR, GJA3, FYCO1, TMEM70, ALDH18A1, AGK, OPA3, CRYAB, NHS, NDP, OCRL, WFS1, ABCB6, PITX3, PAX6, COL2A1, EYA1, RECQL4 Specificity 2 % Genes 8 %
Neuronal Migration Disorder Panel. By Blueprint Genetics in Finland. YWHAE, COL4A2, SEPSECS, LAMB1, MPDZ, TUBG1, KATNB1, RTTN, OCLN, AKT3, PIK3R2, VLDLR, RAB18, PIK3CA, KIF7, RAB3GAP2, GMPPB, GPSM2, FLVCR2, TUBB2A , (...) View the complete list with 38 more genes Panel GTR000552778 complete gene list YWHAE, COL4A2, SEPSECS, LAMB1, MPDZ, TUBG1, KATNB1, RTTN, OCLN, AKT3, PIK3R2, VLDLR, RAB18, PIK3CA, KIF7, RAB3GAP2, GMPPB, GPSM2, FLVCR2, TUBB2A, NSDHL, FAT4, LAMC3, MED12, ACTG1, ACTB, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, NDE1, EMX2, DCX, ARFGEF2, COL4A1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, LAMA2, ISPD, POMT1, DYNC1H1, L1CAM, PHGDH, FKTN, WDR62, MEF2C, ARX, TUBA1A, FH, ATP6V0A2, TUBB3 Specificity 14 % Genes 58 %
Familial vascular leukoencephalopathy. By Bioarray in Spain. COL4A1 Specificity 100 % Genes 8 %
Hemorrhage, intracerebral, susceptibility to. By Bioarray in Spain. COL4A1 Specificity 100 % Genes 8 %
Porencephaly, familial. By LifeLabs Genetics in Canada. COL4A1 Specificity 100 % Genes 8 %
Familial Vascular Leukoencephalopathy, Sequencing COL4A1 Gene. By Reference Laboratory Genetics in Spain. COL4A1 Specificity 100 % Genes 8 %
Hereditary Angiopathy with Nephropathy-Aneurysms and Muscle Cramps (HANAC),Sequencing Exons (24-25) COL4A1 Gene. By Reference Laboratory Genetics in Spain. COL4A1 Specificity 100 % Genes 8 %
Porencephaly Type 1 , Sequencing COL4A1 Gene. By Reference Laboratory Genetics in Spain. COL4A1 Specificity 100 % Genes 8 %
Schizencephaly , Panel Massive Sequencing (NGS) 4 Genes. By Reference Laboratory Genetics in Spain. SIX3, EMX2, COL4A1, SHH Specificity 25 % Genes 8 %
Dolichoectasia , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. MMP3, COL4A2, SLC2A10, COL4A1, GAA Specificity 20 % Genes 8 %
Porencephaly , Panel Massive Sequencing (NGS) COL4A1, COL4A2 Genes. By Reference Laboratory Genetics in Spain. COL4A2, COL4A1 Specificity 50 % Genes 8 %
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes. By Reference Laboratory Genetics in Spain. LAMB1, OCLN, AKT3, PIK3R2, VLDLR, PIK3CA, GPSM2, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN , (...) View the complete list with 18 more genes Panel GTR000559932 complete gene list LAMB1, OCLN, AKT3, PIK3R2, VLDLR, PIK3CA, GPSM2, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, NDE1, DCX, ARFGEF2, COL4A1, ASPM, LARGE1, LAMA2, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, FOXG1, ARX, TUBA1A, TUBB3 Specificity 19 % Genes 50 %
Congenital Muscular Dystrophy Advanced Sequencing Evaluation. By Athena Diagnostics Inc in United States. ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, TCAP, POMT1, POMT2, SELENON, FHL1, FKRP, LMNA , (...) View the complete list with 3 more genes Panel GTR000552527 complete gene list ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, TCAP, POMT1, POMT2, SELENON, FHL1, FKRP, LMNA, DNM2, POMGNT1, FKTN Specificity 48 % Genes 79 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. GMPPB, LMOD3, SPEG, STAC3, POMK, TOR1AIP1, SLC5A7, HNRNPDL, MTMR14, TNNI2, TNPO3, MYF6, LIMS2, KLHL41, GLE1, COL12A1, AMPD1, FBXL4, GAN, HINT1 , (...) View the complete list with 124 more genes Panel GTR000556370 complete gene list GMPPB, LMOD3, SPEG, STAC3, POMK, TOR1AIP1, SLC5A7, HNRNPDL, MTMR14, TNNI2, TNPO3, MYF6, LIMS2, KLHL41, GLE1, COL12A1, AMPD1, FBXL4, GAN, HINT1, PLEKHG5, LAS1L, LAMP2, CHRNG, DNMT1, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, SYNE2, TMEM43, SYNE1, IGHMBP2, VRK1, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, DCTN1, SETX, RYR1, CACNA1S, SELENON, FHL1, BAG3, BSCL2, ATP2A1, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SGCE, SCN4A, DYSF, UBA1, CAV3, FKRP, PABPN1, CLCN1, LMNA, DNM2, HSPB1, HSPB8, TRPV4, FIG4, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, DMD, MGME1, PMM2, PYGM, SUCLG1, CHAT, PHKA1, TYMP, DPM1, TK2, POLG2, REEP1, PNPLA2, SUCLA2, DPM3, CAVIN1, AGK, VCP, CRYAB, RRM2B, GARS, SLC25A4, POLG, TRIM32, GNE, GAA, TWNK, ATP7A Specificity 10 % Genes 93 %
Neuromuscular Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. ALG14, LRP4, PREPL, SYT2, HACD1, COL13A1, ORAI1, STIM1, GMPPB, LMOD3, SPEG, STAC3, POMK, HNRNPDL, TNPO3, MYF6, LIMS2, KLHL41, COL12A1, MYL2 , (...) View the complete list with 91 more genes Panel GTR000529457 complete gene list ALG14, LRP4, PREPL, SYT2, HACD1, COL13A1, ORAI1, STIM1, GMPPB, LMOD3, SPEG, STAC3, POMK, HNRNPDL, TNPO3, MYF6, LIMS2, KLHL41, COL12A1, MYL2, CHST14, TNXB, FKBP14, LAMP2, SNAP25, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, DPM2, B4GAT1, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, ISPD, SGCD, TCAP, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, SYNE2, TMEM43, SYNE1, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, LAMB2, SCN4A, DYSF, CAV3, FKRP, LMNA, DNM2, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, HRAS, DMD, DPAGT1, GBE1, PYGM, CHAT, ALG2, DPM1, DPM3, VCP, CRYAB, TRIM32, GNE, GAA Specificity 10 % Genes 79 %
Cerebral Cortical Malformation Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB , (...) View the complete list with 34 more genes Panel GTR000508586 complete gene list SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB, POMK, GPSM2, TUBB2A, LAMC3, ACTG1, ACTB, KIF1BP, TUBB2B, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, NDE1, DCX, ARFGEF2, B3GALNT2, LARGE1, POMGNT2, B4GAT1, LAMA2, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, SRD5A3, ATP6V0A2, TUBB3 Specificity 19 % Genes 72 %
Lissencephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. LAMB1, SNAP29, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, RELN, NDE1, DCX, B3GALNT2, LARGE1 , (...) View the complete list with 16 more genes Panel GTR000553664 complete gene list LAMB1, SNAP29, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, ARX, TUBA1A, SRD5A3, ATP6V0A2, TUBB3 Specificity 34 % Genes 86 %
Comprehensive Lissencephaly Panel. By Genetic Services Laboratory University of Chicago in United States. LAMB1, SNAP29, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, RELN, DCX, B3GALNT2, LARGE1, RXYLT1 , (...) View the complete list with 14 more genes Panel GTR000500289 complete gene list LAMB1, SNAP29, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, RELN, DCX, B3GALNT2, LARGE1, RXYLT1, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, ARX, TUBA1A, SRD5A3, ATP6V0A2, TUBB3 Specificity 33 % Genes 79 %
Cobblestone Lissencephaly Panel. By Genetic Services Laboratory University of Chicago in United States. LAMB1, SNAP29, GMPPB, POMK, B3GALNT2, LARGE1, RXYLT1, B4GAT1, LAMA2, ISPD, POMT1, POMT2, FKRP, POMGNT1, FKTN, SRD5A3, ATP6V0A2 Specificity 65 % Genes 79 %
Congenital Muscular Dystrophy Deletion/Duplication Analysis. By Genetic Services Laboratory University of Chicago in United States. POMK, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, POMT1, POMT2, DAG1, TRAPPC11, SYNE1, RYR1, SELENON , (...) View the complete list with 6 more genes Panel GTR000506307 complete gene list POMK, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, POMT1, POMT2, DAG1, TRAPPC11, SYNE1, RYR1, SELENON, FKRP, LMNA, POMGNT1, FKTN, DPM3, GAA Specificity 47 % Genes 86 %
Congenital Muscular Dystrophy Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. POMK, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, POMT1, POMT2, DAG1, TRAPPC11, SYNE1, RYR1, SELENON , (...) View the complete list with 7 more genes Panel GTR000506308 complete gene list POMK, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, POMT1, POMT2, DAG1, TRAPPC11, SYNE1, RYR1, SELENON, FKRP, LMNA, POMGNT1, FKTN, DPM1, DPM3, GAA Specificity 45 % Genes 86 %
Cerebral Cortical Malformations Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB , (...) View the complete list with 34 more genes Panel GTR000560681 complete gene list SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB, POMK, GPSM2, TUBB2A, LAMC3, ACTG1, ACTB, KIF1BP, TUBB2B, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, NDE1, DCX, ARFGEF2, B3GALNT2, LARGE1, POMGNT2, B4GAT1, LAMA2, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, SRD5A3, ATP6V0A2, TUBB3 Specificity 19 % Genes 72 %
Congenital Muscular Dystrophy- Dystroglycanopathy Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. GMPPB, POMK, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, ISPD, POMT1, POMT2, DAG1, FKRP, POMGNT1, FKTN Specificity 93 % Genes 93 %
Lissencephaly Panel. By GeneDx in United States. LAMB1, VLDLR, GMPPB, ACTG1, ACTB, PAFAH1B1, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, ISPD, POMT1, POMT2, FKRP, POMGNT1, FKTN , (...) View the complete list with 4 more genes Panel GTR000529135 complete gene list LAMB1, VLDLR, GMPPB, ACTG1, ACTB, PAFAH1B1, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, ISPD, POMT1, POMT2, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, ATP6V0A2 Specificity 46 % Genes 79 %
Congenital muscular dystrophy and hypoglycosylation of a-dystroglycan (sequence analysis of B3GALNT2 gene). By CGC Genetics in Portugal. B3GALNT2 Specificity 100 % Genes 8 %
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. GMPPB, POMK, GOSR2, B3GALNT2, LARGE1, RXYLT1, POMGNT2, DPM2, B4GAT1, ISPD, POMT1, POMT2, DAG1, FKRP, POMGNT1, FKTN, DPM1, DPM3 Specificity 73 % Genes 93 %
Congenital Muscular Dystrophy Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. GMPPB, POMK, COL12A1, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DAG1, EMD , (...) View the complete list with 7 more genes Panel GTR000505633 complete gene list GMPPB, POMK, COL12A1, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DAG1, EMD, FKRP, LMNA, POMGNT1, FKTN, DMD, DPM1, DPM3 Specificity 49 % Genes 93 %
Dystroglycanopathy via the B3GALNT2 Gene. By PreventionGenetics PreventionGenetics in United States. B3GALNT2 Specificity 100 % Genes 8 %
Comprehensive Neuromuscular Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. MYO18B, HNRNPA1, HNRNPA2B1, ALG14, PREPL, SYT2, COL13A1, MICU1, STIM1, ECEL1, MYH3, TNNT3, GMPPB, LMOD3, STAC3, POMK, TOR1AIP1, HNRNPDL, TNNI2, TNPO3 , (...) View the complete list with 104 more genes Panel GTR000552444 complete gene list MYO18B, HNRNPA1, HNRNPA2B1, ALG14, PREPL, SYT2, COL13A1, MICU1, STIM1, ECEL1, MYH3, TNNT3, GMPPB, LMOD3, STAC3, POMK, TOR1AIP1, HNRNPDL, TNNI2, TNPO3, LIMS2, KLHL41, GLE1, COL12A1, CHRNG, SNAP25, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DNAJB6, TRAPPC11, EMD, TMEM43, SYNE1, BICD2, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, CACNA1S, SELENON, FHL1, BAG3, ATP2A1, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, KLHL9, TTN, SCN4A, DYSF, CAV3, FKRP, CLCN1, LMNA, DNM2, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, DMD, DPAGT1, GBE1, PYGM, PFKM, CHAT, ISCU, SQSTM1, ALG2, DPM1, PNPLA2, DPM3, CAVIN1, VCP, CRYAB, TRIM32, GNE, GAA, AGL Specificity 10 % Genes 86 %
Lissencephaly and related disorders NGS test. By Connective Tissue Gene Tests in United States. TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN , (...) View the complete list with 22 more genes Panel GTR000561248 complete gene list TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DAG1, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, SRD5A3, ATP6V0A2, TUBB3 Specificity 31 % Genes 93 %
Lissencephaly and related disorders Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN , (...) View the complete list with 22 more genes Panel GTR000561249 complete gene list TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DAG1, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, SRD5A3, ATP6V0A2, TUBB3 Specificity 31 % Genes 93 %
Lissencephaly and related disorders Comprehensive test. By Connective Tissue Gene Tests in United States. TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN , (...) View the complete list with 22 more genes Panel GTR000561251 complete gene list TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DAG1, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, SRD5A3, ATP6V0A2, TUBB3 Specificity 31 % Genes 93 %
Muscular dystrophy, dystroglycanopathy. By Institute of Human Genetics Cologne University in Germany. B3GNT2, GMPPB, POMK, B3GALNT2, LARGE1, RXYLT1, POMGNT2, ISPD, POMT1, POMT2, FKRP, POMGNT1, FKTN Specificity 85 % Genes 79 %
Alpha-Dystroglycanopathy. By MGZ Medical Genetics Center in Germany. GMPPB, POMK, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, ISPD, POMT1, POMT2, FKRP, POMGNT1, FKTN Specificity 93 % Genes 86 %
Muscle Disease with CNS Involvement. By MGZ Medical Genetics Center in Germany. MICU1, GMPPB, STAC3, POMK, LAMP2, SNAP25, B3GALNT2, LARGE1, RXYLT1, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, SIL1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1 , (...) View the complete list with 6 more genes Panel GTR000521061 complete gene list MICU1, GMPPB, STAC3, POMK, LAMP2, SNAP25, B3GALNT2, LARGE1, RXYLT1, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, SIL1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1, CCDC78, MYH7, TTN, FKRP, POMGNT1, FKTN Specificity 47 % Genes 86 %
Newborn: “Floppy Infant “. By MGZ Medical Genetics Center in Germany. SLC52A3, ALG14, GMPPB, POMK, FKBP14, LAS1L, LAMP2, CUL4B, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2 , (...) View the complete list with 53 more genes Panel GTR000521064 complete gene list SLC52A3, ALG14, GMPPB, POMK, FKBP14, LAS1L, LAMP2, CUL4B, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, ISPD, TCAP, POMT1, POMT2, PLEC, SYNE1, IGHMBP2, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, SELENON, TTN, SCN4A, UBA1, FKRP, LMNA, DNM2, EGR2, NEFL, MPZ, TRPV4, GDAP1, RAPSN, POMGNT1, NEB, FKTN, DOK7, CHRNE, DPAGT1, GBE1, CHAT, ALG2, MFN2, GARS, GAA Specificity 17 % Genes 86 %
Muscle Weakness (Myopathy, Muscular Dystrophy). By MGZ Medical Genetics Center in Germany. SLC6A5, GLRA1, GLRB, SLC52A3, ALG14, LRP4, PREPL, MICU1, ORAI1, STIM1, HADH, PGK1, FDX2, MYBPC1, PIEZO2, GMPPB, STAC3, POMK, TOR1AIP1, MTMR14 , (...) View the complete list with 159 more genes Panel GTR000521098 complete gene list SLC6A5, GLRA1, GLRB, SLC52A3, ALG14, LRP4, PREPL, MICU1, ORAI1, STIM1, HADH, PGK1, FDX2, MYBPC1, PIEZO2, GMPPB, STAC3, POMK, TOR1AIP1, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, AARS, HINT1, TNXB, FKBP14, LAS1L, LAMP2, MYH14, CUL4B, SNAP25, HNRNPU, GOSR2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DNAJB6, TRAPPC11, EMD, SYNE2, TMEM43, SYNE1, IGHMBP2, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, CACNA1S, SELENON, FHL1, BAG3, HSPG2, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCN4A, DYSF, UBA1, CAV3, FKRP, CLCN1, LMNA, DNM2, EGR2, NEFL, MPZ, TRPV4, GDAP1, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, PHOX2B, DMD, DPAGT1, SDHA, KIF21A, SEPT9, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CHAT, CPT1A, ISCU, COX15, LPIN1, ABHD5, TAZ, PUS1, SCO2, ALG2, HADHB, GFM1, TK2, POLG2, PNPLA2, SLC25A3, PGM1, CAVIN1, TMEM70, AGK, MTO1, VCP, HADHA, CRYAB, MFN2, RRM2B, GARS, SLC25A4, POLG, TRIM32, GNE, CPT2, AMACR, TUBB3, GAA, TWNK, ACADVL, AGL, ACADS, ACADM, ACAD9, TTR Specificity 7 % Genes 86 %
Congenital muscular dystrophy and hypoglycosylation of a-dystroglycan. By Centogene AG - the Rare Disease Company in Germany. B3GALNT2 Specificity 100 % Genes 8 %
Brain malformations. By Asper Biogene Asper Biogene LLC in Estonia. CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3 , (...) View the complete list with 125 more genes Panel GTR000553541 complete gene list CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3, NHEJ1, AKT3, PIK3R2, DHCR24, VLDLR, IER3IP1, RAB18, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, EFTUD2, KIF11, AP4M1, RAB3GAP2, TUBB4A, CHMP1A, PIEZO2, GMPPB, POMK, GPSM2, ATR, PCNT, CDK5RAP2, CEP152, TUBB2A, TSEN2, TSEN34, EXOSC3, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FAT4, TMEM231, LAMC3, ACTG1, ACTB, ZEB2, CUL4B, CASK, OPHN1, ATRX, OFD1, KIF1BP, TCF4, PNKP, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, RAB3GAP1, PQBP1, NDE1, DCX, CENPJ, ARFGEF2, ASPM, MCPH1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, VRK1, DYNC1H1, WASHC5, FKRP, AHI1, TMEM216, SLC12A6, POMGNT1, PEX1, PEX2, FKTN, NBN, WDR62, DHCR7, CREBBP, ARX, PDHX, MKS1, ETFDH, ETFA, ETFB, DLAT, PDHA1, AMT, GLDC, GCSH, PDP1, RARS2, TUBA1A, PDHB, MECP2, SLC25A19, DLD, CEP290, NPHP1, TMEM67, SRD5A3, ATP6V0A2, CC2D2A, INPP5E, TUBB3 Specificity 9 % Genes 86 %
Invitae Comprehensive Neuromuscular Disorders Panel. By Invitae in United States. VMA21, STIM1, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL2, MYPN, FKBP14, LAMP2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB , (...) View the complete list with 84 more genes Panel GTR000551683 complete gene list VMA21, STIM1, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL2, MYPN, FKBP14, LAMP2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, KCNJ2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, CACNA1S, SELENON, FHL1, BAG3, ATP2A1, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCN4A, DYSF, CAV3, FKRP, CLCN1, SMN2, LMNA, DNM2, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, SMN1, DMD, DPAGT1, CHAT, TAZ, SQSTM1, ALG2, DPM1, PNPLA2, DPM3, VCP, CRYAB, TRIM32, GNE, CPT2, GAA Specificity 13 % Genes 93 %
Invitae Dystroglycanopathy Panel. By Invitae in United States. GMPPB, POMK, B3GALNT2, LARGE1, RXYLT1, POMGNT2, DPM2, B4GAT1, ISPD, POMT1, POMT2, DAG1, FKRP, POMGNT1, FKTN, DPM1, DPM3 Specificity 77 % Genes 93 %
Invitae Comprehensive Muscular Dystrophy Panel. By Invitae in United States. GMPPB, POMK, TNPO3, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2 , (...) View the complete list with 26 more genes Panel GTR000551761 complete gene list GMPPB, POMK, TNPO3, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, DMD, DPM1, PNPLA2, DPM3, TRIM32, GAA Specificity 29 % Genes 93 %
Invitae Congenital Muscular Dystrophy Panel. By Invitae in United States. GMPPB, POMK, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, FKRP , (...) View the complete list with 6 more genes Panel GTR000551774 complete gene list GMPPB, POMK, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, FKRP, LMNA, POMGNT1, FKTN, DMD, DPM1, DPM3 Specificity 50 % Genes 93 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel. By Invitae in United States. STIM1, VCL, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, PLN , (...) View the complete list with 93 more genes Panel GTR000551814 complete gene list STIM1, VCL, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, FKBP14, LAMP2, CACNA1C, SCN5A, HCN4, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, TMEM43, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, MYBPC3, RYR1, SELENON, FHL1, BAG3, ATP2A1, MATR3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, FKRP, LMNA, DNM2, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, SQSTM1, DPM1, PNPLA2, DPM3, VCP, RAF1, CRYAB, DSP, TRIM32, GNE, CPT2, EYA4, GAA, AGL, TTR Specificity 12 % Genes 93 %
Congenital Muscular Dystrophy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, RYR1, SELENON, FKRP, LMNA , (...) View the complete list with 4 more genes Panel GTR000503227 complete gene list ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, RYR1, SELENON, FKRP, LMNA, POMGNT1, FKTN, DPM1, DPM3 Specificity 46 % Genes 79 %
Congenital Muscular Dystrophy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, RYR1, SELENON, FKRP, LMNA , (...) View the complete list with 4 more genes Panel GTR000558806 complete gene list ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, RYR1, SELENON, FKRP, LMNA, POMGNT1, FKTN, DPM1, DPM3 Specificity 46 % Genes 79 %
Walker-Warburg Syndrome , Panel Massive Sequencing 13 Genes. By Reference Laboratory Genetics in Spain. GMPPB, POMK, B3GALNT2, LARGE1, RXYLT1, B4GAT1, ISPD, POMT1, POMT2, DAG1, FKRP, POMGNT1, FKTN Specificity 93 % Genes 86 %
GeneAware Complete Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...) View the complete list with 139 more genes Panel GTR000553929 complete gene list TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB6, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, IL2RG, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC22A5, CYP27A1, ASS1, LRPPRC, GALT, GCDH, CBS, SLC25A15, IVD, GALC, MAN2B1, DBT, SGSH, CHAT, CPT1A, AGXT, PAH, PTS, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, OTC, MYO7A, ETHE1, MPI, AMT, GLDC, PCCA, PCCB, G6PC, HMGCL, FAH, DHDDS, HPS3, CDH23, SLC26A4, MECP2, SMPD1, FH, HADHA, SLC25A13, POLG, DLD, PCDH15, USH2A, CLRN1, NPHP1, CYP1B1, OCRL, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, USH1C, PC, ALDOB, ACADVL, AGL, ACADM, UBE3A, FMR1 Specificity 2 % Genes 15 %
GeneAware Complete Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...) View the complete list with 129 more genes Panel GTR000553930 complete gene list TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CTNS, NEB, HBA2, MTTP, FKTN, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB6, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC22A5, CYP27A1, ASS1, LRPPRC, GALT, GCDH, CBS, SLC25A15, IVD, GALC, MAN2B1, DBT, SGSH, CHAT, CPT1A, AGXT, PAH, PTS, CTSK, HEXB, ALDH3A2, HEXA, MYO7A, ETHE1, MPI, AMT, GLDC, PCCA, PCCB, G6PC, HMGCL, FAH, DHDDS, HPS3, CDH23, SLC26A4, SMPD1, FH, HADHA, SLC25A13, POLG, DLD, PCDH15, USH2A, CLRN1, NPHP1, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, LAMB3, BTD, ALPL, USH1C, PC, ALDOB, ACADVL, AGL, ACADM, UBE3A Specificity 2 % Genes 15 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DMD, DHCR7, BLM, GBA , (...) View the complete list with 19 more genes Panel GTR000553933 complete gene list TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, BBS2, PMM2, GALT, HEXA, G6PC, FAH, DHDDS, SMPD1, DLD, PCDH15, CLRN1, CPT2, BCKDHB, ATP7B, FMR1 Specificity 3 % Genes 8 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC , (...) View the complete list with 17 more genes Panel GTR000553935 complete gene list TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, BBS2, PMM2, GALT, HEXA, G6PC, FAH, DHDDS, SMPD1, DLD, PCDH15, CLRN1, CPT2, BCKDHB, ATP7B Specificity 3 % Genes 8 %
Limb Girdle Muscular Dystrophy Advanced Evaluation. By Athena Diagnostics Inc in United States. SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB , (...) View the complete list with 3 more genes Panel GTR000552511 complete gene list SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32 Specificity 27 % Genes 43 %
Muscular Dystrophy Advanced Evaluation. By Athena Diagnostics Inc in United States. SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, SYNE2, TMEM43, SYNE1, CCDC78, FHL1, MYOT, ANO5, DES, TTN , (...) View the complete list with 13 more genes Panel GTR000552513 complete gene list SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, SYNE2, TMEM43, SYNE1, CCDC78, FHL1, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, DMD, CAVIN1, TRIM32 Specificity 22 % Genes 50 %
Comprehensive Cardiac Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 87 more genes Panel GTR000556277 complete gene list DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, A2ML1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, SLC22A5, TAZ, TMEM70, MTO1, RAF1, CRYAB, DSP, GAA, ACADVL, AGL, TTR Specificity 2 % Genes 15 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA , (...) View the complete list with 27 more genes Panel GTR000552467 complete gene list PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA, ETFB, PYGM, PFKM, ISCU, PGAM2, PHKB, LPIN1, PHKA1, HADHB, TK2, TSFM, SUCLA2, ENO3, LDHA, PGM1, DGUOK, HADHA, RRM2B, POLG, CPT2, SLC16A1, GAA, TWNK, ALDOA, ACADVL, AGL, ACADM Specificity 5 % Genes 15 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA , (...) View the complete list with 27 more genes Panel GTR000552468 complete gene list PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA, ETFB, PYGM, PFKM, ISCU, PGAM2, PHKB, LPIN1, PHKA1, HADHB, TK2, TSFM, SUCLA2, ENO3, LDHA, PGM1, DGUOK, HADHA, RRM2B, POLG, CPT2, SLC16A1, GAA, TWNK, ALDOA, ACADVL, AGL, ACADM Specificity 5 % Genes 15 %
Ashkenazi Jewish Carrier Screening Panel. By Center for Human Genetics, Inc in United States. F11, TMEM216, ABCC8, MCOLN1, NEB, FKTN, BLM, GBA, FANCC, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB Specificity 6 % Genes 8 %
Test for FKTN-Related Muscle Diseases. By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. FKTN Specificity 100 % Genes 8 %
CMD panel. By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. POMT1, POMT2, FKRP, POMGNT1, FKTN Specificity 100 % Genes 36 %
Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 92 more genes Panel GTR000528536 complete gene list TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, SCN4B, AKAP9, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, FXN, CBS, SURF1, COX15, TAZ, SCO2, FBN1, RAF1, CRYAB, DSP, EYA4, COL3A1, GAA, TTR Specificity 1 % Genes 8 %
Dilated Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. TMPO, TXNRD2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1 , (...) View the complete list with 24 more genes Panel GTR000528545 complete gene list TMPO, TXNRD2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, ILK, PDLIM3, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, DMD, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 3 % Genes 8 %
Comprehensive Neuromuscular Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD , (...) View the complete list with 59 more genes Panel GTR000552180 complete gene list MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, ACTA1, TPM3, RYR1, SELENON, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SGCE, SCN4A, DYSF, CAV3, FKRP, PABPN1, LMNA, DNM2, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, DMD, PMM2, PYGM, CHAT, CAVIN1, VCP, CRYAB, TRIM32, GNE, GAA Specificity 11 % Genes 58 %
Congenital Muscular Dystrophy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, RYR1, SELENON, FKRP, LMNA, POMGNT1, FKTN, DPM1, DPM3 Specificity 40 % Genes 58 %
Limb-Girdle Muscular Dystrophy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. COL6A1, COL6A3, COL6A2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, EMD, SYNE2, SYNE1, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...) View the complete list with 14 more genes Panel GTR000552321 complete gene list COL6A1, COL6A3, COL6A2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, EMD, SYNE2, SYNE1, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, DMD, VCP, TRIM32, GNE, GAA Specificity 21 % Genes 50 %
Cerebral Cortical Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. RTTN, OCLN, VLDLR, RAB18, RAB3GAP2, LAMC3, ACTG1, ACTB, KIF1BP, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, RAB3GAP1, DCX, LARGE1, POMT1, POMT2, FKRP , (...) View the complete list with 6 more genes Panel GTR000508585 complete gene list RTTN, OCLN, VLDLR, RAB18, RAB3GAP2, LAMC3, ACTG1, ACTB, KIF1BP, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, RAB3GAP1, DCX, LARGE1, POMT1, POMT2, FKRP, POMGNT1, FKTN, WDR62, ARX, TUBA1A, TUBB3 Specificity 24 % Genes 43 %
Limb-Girdle Muscular Dystrophy Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. GMPPB, POMK, HNRNPDL, TNPO3, LIMS2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...) View the complete list with 11 more genes Panel GTR000506322 complete gene list GMPPB, POMK, HNRNPDL, TNPO3, LIMS2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32, GAA Specificity 26 % Genes 58 %
Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. GMPPB, POMK, HNRNPDL, TNPO3, LIMS2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...) View the complete list with 11 more genes Panel GTR000560686 complete gene list GMPPB, POMK, HNRNPDL, TNPO3, LIMS2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32, GAA Specificity 26 % Genes 58 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...) View the complete list with 460 more genes Panel GTR000553853 complete gene list PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1, UROC1, PMPCA, RUBCN, COQ4, SLC52A3, SLC9A1, MAPK10, YME1L1, LMNB1, ITM2B, FGF12, DGAT2, ARV1, STUB1, PUM1, OTUD4, NAT8L, ZIC4, VARS, TDP2, TRPC3, TELO2, SLC6A19, RNF168, ERCC5, SCYL1, RNF216, RNASEH1, RTN4IP1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, COL18A1, DOCK3, ATCAY, BEAN1, CAMTA1, CACNA1G, CTBP1, ATP2B3, ATP8A2, RARS, NAXE, AAAS, NUP62, UBA5, MECR, COX20, TBCE, SEPSECS, XRCC4, ZIC1, CA8, CCDC88C, ARL6IP1, IBA57, TUBB, LRP4, DNAJC3, HEPACAM, HERC1, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, SAMD9L, TCTN3, PGM3, SLC25A46, ADA2, SLC39A4, GSS, GCLC, LIG4, ERCC8, APOB, SLC20A2, TPK1, SLC46A1, PRNP, COG4, MT-TP, SCO1, COX10, MARS2, VLDLR, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, ERCC4, CP, FTL, GJA1, CTC1, RNASET2, HNRNPH2, PGK1, CTDP1, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, CPT1C, MAG, HACE1, CAPN1, KIDINS220, ERLIN1, ERCC6, CHMP1A, PIEZO2, GMPPB, FBXL4, NKX2-1, CAV1, IFT140, GAN, LRSAM1, MME, NALCN, TSEN2, TSEN34, EXOSC3, CLCN2, SLC16A2, DKC1, NEU1, MVK, PEX10, PEX26, PEX16, KIAA0586, AP1S2, PRPS1, SLC19A2, SOX10, DNMT1, POLR1C, ERCC3, CLPP, HTRA1, GFAP, CUL4B, CASK, OPHN1, OFD1, TCF4, KCNJ10, PNKP, SPTAN1, SCN8A, ROGDI, SLC13A5, SNAP25, KCNA2, ATP13A2, MFSD8, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, DCX, BRAT1, PRRT2, TBC1D24, SCARB2, MBD5, LMNB2, EPM2A, KCNC1, KCNQ2, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, ATP1A3, ATP1A2, LARGE1, POMGNT2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1, VRK1, DYNC1H1, SETX, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, GCH1, CACNA1A, FKRP, AHI1, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, GJB1, DNM2, EGR2, PMP22, MPZ, SH3TC2, PRX, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, POMGNT1, PEX1, MLC1, TH, SACS, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, PRF1, SDHD, NF2, MRE11, ATM, WDR62, TINF2, SLC2A1, PLP1, PCDH19, NPC2, NPC1, GJC2, FOXG1, EIF2B1, CDKL5, ARSA, PNP, SDHA, MTFMT, FARS2, TACO1, SOD1, PNKD, WWOX, TPP1, ASL, APTX, MKS1, PMM2, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GBE1, L2HGDH, GALC, DLAT, SUCLG1, DBT, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, MPV17, PTS, PHYH, HEXB, ALDH5A1, SUOX, HEXA, TCN2, MMADHC, ABCD1, SLC9A6, ABCB7, PDHA1, OTC, SQSTM1, ETHE1, TYMP, ALG6, SPG7, COQ2, GRN, DPM1, FLVCR1, MPDU1, CTSD, DNAJC19, REEP1, TSFM, DARS2, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, SPR, GAMT, GPI, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, TMEM70, PDHB, ALDH18A1, COX14, NDUFA9, NDUFB3, HARS, NDUFA12, ACO2, COQ6, PDSS1, PDSS2, COQ9, MECP2, OPA3, PANK2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, DLD, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, PSAP, WFS1, OPA1, CPS1, HSD17B4, AMACR, INPP5E, PSEN1, PAX6, PRKCG, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, BTD, HLCS, UQCRB, UQCRQ, PC, ABHD12, AARS2, UBE3A, TTR, FMR1 Specificity 2 % Genes 58 %
FKTN. By Institute for Human Genetics University Clinic Freiburg in Germany. FKTN Specificity 100 % Genes 8 %
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes). By ARUP Laboratories, Molecular Genetics and Genomics in United States. MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP , (...) View the complete list with 65 more genes Panel GTR000520063 complete gene list MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, TGFB3, MYLK2, ACTC1, ILK, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, SYNE1, MYBPC3, LDB3, MYOT, MYH7, DES, TTN, CAV3, FKRP, LMNA, SGCG, SGCB, SGCA, FKTN, GLA, DMD, FXN, COX15, TAZ, SCO2, SLC25A4, DSP, EYA4, GAA, TTR Specificity 3 % Genes 15 %
Comprehensive Brain Malformations Panel. By GeneDx in United States. OCLN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, TSEN2, TSEN34, LAMC3, CASK, OPHN1, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8 , (...) View the complete list with 24 more genes Panel GTR000521226 complete gene list OCLN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, TSEN2, TSEN34, LAMC3, CASK, OPHN1, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, PQBP1, NDE1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, VRK1, FKRP, AHI1, TMEM216, POMGNT1, FKTN, ARX, MKS1, RARS2, TUBA1A, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E, TUBB3 Specificity 14 % Genes 43 %
Cortical Brain Malformations Panel. By GeneDx in United States. OCLN, VLDLR, EOMES, LAMC3, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, FKRP, POMGNT1 , (...) View the complete list with 4 more genes Panel GTR000521227 complete gene list OCLN, VLDLR, EOMES, LAMC3, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, FKRP, POMGNT1, FKTN, ARX, TUBA1A, TUBB3 Specificity 25 % Genes 43 %
Comprehensive Cardiomyopathy Panel. By GeneDx in United States. MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, MT-ND5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1 , (...) View the complete list with 56 more genes Panel GTR000520445 complete gene list MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, MT-ND5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, RYR2, PKP2, ABCC9, LAMP2, MT-TS2, MT-TS1, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, MT-ND6, MT-ND1, MT-TK, MT-TL1, LMNA, FKTN, MAP2K2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, TAZ, RAF1, CRYAB, DSP, TTR Specificity 2 % Genes 8 %
CardioNext with TTN. By Ambry Genetics in United States. TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 65 more genes Panel GTR000560510 complete gene list TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, PTPN11, GLA, DMD, FXN, TAZ, RAF1, CRYAB, DSP, JAG1, EYA4, TTR Specificity 2 % Genes 8 %
CMNext with TTN. By Ambry Genetics in United States. TBX20, TMPO, TXNRD2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...) View the complete list with 35 more genes Panel GTR000560519 complete gene list TBX20, TMPO, TXNRD2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, PTPN11, GLA, DMD, FXN, TAZ, TGFB3, RAF1, CRYAB, DSP, EYA4, TTR Specificity 2 % Genes 8 %
CustomNext: Cardio. By Ambry Genetics in United States. TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP , (...) View the complete list with 86 more genes Panel GTR000560528 complete gene list TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, SMAD4, PTPN11, PLOD1, GLA, DMD, COL5A2, COL5A1, FXN, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, JAG1, EYA4, COL3A1, TTR Specificity 1 % Genes 8 %
DCMNext with TTN. By Ambry Genetics in United States. TBX20, TMPO, TXNRD2, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, ABCC9 , (...) View the complete list with 16 more genes Panel GTR000560529 complete gene list TBX20, TMPO, TXNRD2, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, ABCC9, LAMP2, SCN5A, TCAP, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, DMD, TAZ, RAF1, EYA4, TTR Specificity 3 % Genes 8 %
FKTN. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. FKTN Specificity 100 % Genes 8 %
FKTN. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. FKTN Specificity 100 % Genes 8 %
Fukuyama congenital muscular dystrophy (sequence analysis of FKTN gene). By CGC Genetics in Portugal. FKTN Specificity 100 % Genes 8 %
Limb-girdle muscular dystrophies (NGS panel for 26 genes). By CGC Genetics in Portugal. GMPPB, HNRNPDL, TNPO3, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3 , (...) View the complete list with 6 more genes Panel GTR000523959 complete gene list GMPPB, HNRNPDL, TNPO3, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32 Specificity 24 % Genes 43 %
Congenital muscular dystrophies (NGS panel for 31 genes). By CGC Genetics in Portugal. GMPPB, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, DPM2, LAMA2, SMCHD1, ISPD, TCAP, POMT1, POMT2, EMD, SYNE2, TMEM43, SYNE1, SELENON, FHL1 , (...) View the complete list with 11 more genes Panel GTR000525266 complete gene list GMPPB, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, DPM2, LAMA2, SMCHD1, ISPD, TCAP, POMT1, POMT2, EMD, SYNE2, TMEM43, SYNE1, SELENON, FHL1, ANO5, TTN, DYSF, FKRP, PABPN1, LMNA, DNM2, POMGNT1, FKTN, DMD, CAVIN1 Specificity 23 % Genes 50 %
Hyperekplexia (NGS panel for 7 genes). By CGC Genetics in Portugal. GPHN, SLC6A5, GLRA1, GLRB, ASNS, ARHGEF9, FKTN Specificity 15 % Genes 8 %
FKTN-Related Muscle Diseases. By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics in United States. FKTN Specificity 100 % Genes 8 %
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF , (...) View the complete list with 13 more genes Panel GTR000509695 complete gene list GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, PNPLA2, VCP, TRIM32, GAA Specificity 22 % Genes 50 %
Comprehensive Cardiology Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP , (...) View the complete list with 144 more genes Panel GTR000553680 complete gene list ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP, CRELD1, ZIC3, TMPO, ABCG8, ABCG5, FHL2, TBX5, SALL4, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, ILK, PDLIM3, KCNA5, EFEMP2, LTBP2, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, SMAD3, NOTCH1, TGFB2, NODAL, LAMP2, CACNA1C, KCNQ1, KCNE1, MYO6, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, RYR1, SELENON, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, APOE, LMNA, HSPB8, SGCG, FKTN, PRKAR1A, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, ALMS1, CBS, COX15, TAZ, SCO2, DNAJC19, GCKR, FBN1, RAF1, HADHA, CRYAB, SLC25A4, DSP, JAG1, EYA4, ELN, COL3A1, GAA, TTR, HFE Specificity 2 % Genes 15 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1 , (...) View the complete list with 29 more genes Panel GTR000555626 complete gene list MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, FBN2, TGFBR2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, MYBPC3, MYH7, DES, CAV3, LMNA, FKTN, NRAS, FBN1, DSP, EYA4, TTR Specificity 3 % Genes 8 %
Dilated Cardiomyopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TMPO, FHL2, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16 , (...) View the complete list with 27 more genes Panel GTR000556120 complete gene list TMPO, FHL2, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, ACTC1, ILK, PDLIM3, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, DMD, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 3 % Genes 8 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CALR3, MIB1, CAVIN4, TMPO, FHL2, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN , (...) View the complete list with 62 more genes Panel GTR000556195 complete gene list CALR3, MIB1, CAVIN4, TMPO, FHL2, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, ILK, PDLIM3, RYR2, PKP2, ABCC9, TGFBR2, LAMP2, MYO6, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, LMNA, SGCG, FKTN, PRKAR1A, MAP2K2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, TAZ, SCO2, RAF1, CRYAB, DSP, EYA4, GAA, TTR Specificity 3 % Genes 15 %
Dystroglycanopathy via FKTN Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. FKTN Specificity 100 % Genes 8 %
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. FLAD1, GYG1, RBCK1, HADH, PGK1, FDX2, AMPD1, LAMP2, SIL1, RYR1, ANO5, DYSF, FKRP, FKTN, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1 , (...) View the complete list with 39 more genes Panel GTR000553713 complete gene list FLAD1, GYG1, RBCK1, HADH, PGK1, FDX2, AMPD1, LAMP2, SIL1, RYR1, ANO5, DYSF, FKRP, FKTN, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CPT1A, ISCU, PGAM2, LPIN1, ABHD5, PHKA1, TAZ, TYMP, COQ2, HADHB, TK2, POLG2, PNPLA2, GYS1, COQ8A, SUCLA2, ENO3, LDHA, PGM1, PDSS1, PDSS2, COQ9, OPA3, HADHA, RRM2B, POLG, OPA1, CPT2, AMACR, GAA, TWNK, ALDOA, ACADVL, AGL, ACADS, ACADM, ACAD9 Specificity 4 % Genes 15 %
Fukuyama Congenital Muscular Dystrophy via the FKTN Japanese Founder Mutation. By PreventionGenetics PreventionGenetics in United States. FKTN Specificity 100 % Genes 8 %
Limb girdle muscular dystrophy Comprehensive panel. By Connective Tissue Gene Tests in United States. GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, LARGE1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5 , (...) View the complete list with 15 more genes Panel GTR000559219 complete gene list GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, LARGE1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32, GAA Specificity 26 % Genes 65 %
Limb girdle muscular dystrophy Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, LARGE1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5 , (...) View the complete list with 15 more genes Panel GTR000559223 complete gene list GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, LARGE1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32, GAA Specificity 26 % Genes 65 %
Limb girdle muscular dystrophy NGS panel. By Connective Tissue Gene Tests in United States. GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, LARGE1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5 , (...) View the complete list with 15 more genes Panel GTR000559226 complete gene list GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, LARGE1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32, GAA Specificity 26 % Genes 65 %
Muscular Dystrophy: Limb Girdle - autosomal recessive. By MGZ Medical Genetics Center in Germany. SGCD, TCAP, POMT1, POMT2, PLEC, ANO5, TTN, DYSF, FKRP, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32 Specificity 32 % Genes 36 %
Dystroglycanopathies. By MGZ Medical Genetics Center in Germany. LARGE1, POMT1, POMT2, FKRP, POMGNT1, FKTN Specificity 100 % Genes 43 %
Heart Diseases - panels. By MGZ Medical Genetics Center in Germany. TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...) View the complete list with 137 more genes Panel GTR000552431 complete gene list TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, TGFB3, ACTC1, BMPR2, DNAH11, KDM6A, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, ABCC9, TGFBR2, TGFBR1, NOTCH1, FOXH1, NODAL, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNE1, TBX1, ZEB2, KMT2D, SCN5A, KCNH2, LARGE1, CHKB, KCNJ2, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, SGCG, POMGNT1, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, CHD7, BRAF, KCNQ1, SDHA, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, CPT1A, COX15, TAZ, SCO2, GFM1, PNPLA2, SLC25A3, TMEM70, AGK, MTO1, FBN1, VCP, RAF1, CRYAB, DSP, JAG1, GNE, CPT2, ELN, GAA, ACADVL, AGL, ACADS, ACADM, ACAD9, AARS2, TTR Specificity 4 % Genes 43 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR). By MGZ Medical Genetics Center in Germany. STIM1, HADH, GMPPB, TOR1AIP1, TNPO3, LIMS2, HINT1, LAMP2, HNRNPU, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, CHRNB1, CHRND, CHRNA1, GFPT1, COLQ, SGCD , (...) View the complete list with 70 more genes Panel GTR000521121 complete gene list STIM1, HADH, GMPPB, TOR1AIP1, TNPO3, LIMS2, HINT1, LAMP2, HNRNPU, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, CHRNB1, CHRND, CHRNA1, GFPT1, COLQ, SGCD, TCAP, POMT1, POMT2, PLEC, DNAJB6, TRAPPC11, EMD, TMEM43, MYH2, ACTA1, RYR1, SELENON, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCN4A, DYSF, CAV3, FKRP, CLCN1, LMNA, DNM2, TRPV4, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, DMD, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, ISCU, LPIN1, ABHD5, PUS1, HADHB, TK2, PNPLA2, VCP, HADHA, CRYAB, RRM2B, POLG, TRIM32, GNE, CPT2, DYNC1H1, BICD2, MTM1, GAA, ACADVL, AGL, ACADM Specificity 7 % Genes 43 %
Cardiomyopathy panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. MYOZ1, TRIM63, CALR3, TMPO, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 41 more genes Panel GTR000509411 complete gene list MYOZ1, TRIM63, CALR3, TMPO, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYOT, FLNC, MYH7, DES, CAV3, LMNA, FKTN, GLA, DMD, TAZ, CRYAB, DSP, EYA4, TTR Specificity 2 % Genes 8 %
Fukuyama congenital muscular dystrophy. By Centogene AG - the Rare Disease Company in Germany. FKTN Specificity 100 % Genes 8 %
Limb-girdle muscular dystrophy, autosomal recessive type 2M. By Centogene AG - the Rare Disease Company in Germany. FKTN Specificity 100 % Genes 8 %
Walker-Warburg syndrome. By Centogene AG - the Rare Disease Company in Germany. FKTN Specificity 100 % Genes 8 %
Limb-girdle muscular dystrophy panel. By Centogene AG - the Rare Disease Company in Germany. SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN , (...) View the complete list with 1 more genes Panel GTR000519391 complete gene list SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32 Specificity 29 % Genes 43 %
Walker-Warburg syndrome panel. By Centogene AG - the Rare Disease Company in Germany. ISPD, POMT1, POMT2, FKRP, FKTN Specificity 100 % Genes 36 %
CentoICU platinum plus. By Centogene AG - the Rare Disease Company in Germany. OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...) View the complete list with 494 more genes Panel GTR000530427 complete gene list OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, GP9, ACTN1, ASNS, FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, CACNA1C, FUCA1, TJP2, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, PTPN11, POMC, PLOD1, PAH, QDPR, PTS, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 22 %
CentoICU platinum. By Centogene AG - the Rare Disease Company in Germany. FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...) View the complete list with 494 more genes Panel GTR000530428 complete gene list FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, CACNA1C, FUCA1, TJP2, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, PTPN11, POMC, PLOD1, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, GP9, ACTN1, ASNS, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, PAH, QDPR, PTS, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 22 %
Cardiomyopathy, dilated type 1X. By Centogene AG - the Rare Disease Company in Germany. FKTN Specificity 100 % Genes 8 %
Muscular Dystrophies Panel. By CeGaT GmbH in Germany. GMPPB, ALG13, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, DPM2, LAMA2, SMCHD1, ISPD, TCAP, POMT1, POMT2, EMD, SYNE2, TMEM43, SYNE1, SELENON , (...) View the complete list with 12 more genes Panel GTR000522468 complete gene list GMPPB, ALG13, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, DPM2, LAMA2, SMCHD1, ISPD, TCAP, POMT1, POMT2, EMD, SYNE2, TMEM43, SYNE1, SELENON, FHL1, ANO5, TTN, DYSF, FKRP, PABPN1, LMNA, POMGNT1, FKTN, DMD, DPM1, CAVIN1 Specificity 22 % Genes 50 %
Limb-Girdle Muscular Dystrophies Panel. By CeGaT GmbH in Germany. GMPPB, POMK, HNRNPDL, TNPO3, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...) View the complete list with 14 more genes Panel GTR000522497 complete gene list GMPPB, POMK, HNRNPDL, TNPO3, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, DMD, DPM3, TRIM32, GNE, GAA Specificity 24 % Genes 58 %
Limb-Girdle Muscular Dystrophy type 2 (LGMD2). By Laboratory of Human Genetics GENOMED Health Care Center in Poland. SGCD, TCAP, POMT2, PLEC, TRAPPC11, ANO5, DYSF, FKRP, CAPN3, SGCG, POMGNT1, SGCA, FKTN Specificity 31 % Genes 29 %
Limb girdle muscular dystrophy 2M. By MVZ Dortmund Dr. Eberhard & Partner in Germany. FKTN Specificity 100 % Genes 8 %
Limb girdle muscular dystrophy-Panel. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SGCD, TCAP, POMT1, POMT2, DNAJB6, MYOT, ANO5, DES, DYSF, CAV3, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, DMD, TRIM32 Specificity 17 % Genes 22 %
FKTN. By MVZ Dortmund Dr. Eberhard & Partner in Germany. FKTN Specificity 100 % Genes 8 %
Ashkenazi Jewish diseases. By Asper Biogene Asper Biogene LLC in Estonia. F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA , (...) View the complete list with 17 more genes Panel GTR000507864 complete gene list F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA, MAK, BBS2, HEXA, LCA5, G6PC, FAM161A, DHDDS, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, AGL, MSH6, MSH2, BRCA2, BRCA1 Specificity 3 % Genes 8 %
Limb-Girdle Muscular Dystrophy. By Asper Biogene Asper Biogene LLC in Estonia. GMPPB, POMK, HNRNPDL, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, LMNA, CAPN3 , (...) View the complete list with 6 more genes Panel GTR000560317 complete gene list GMPPB, POMK, HNRNPDL, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32 Specificity 27 % Genes 50 %
Inherited Cardiovascular Diseases and Sudden Death Panel. By Health in Code in Spain. FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...) View the complete list with 193 more genes Panel GTR000521465 complete gene list FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, APOA5, APOB, PCSK9, CETP, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, PRKG1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, NOTCH3, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, ENG, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, COL5A1, ALMS1, PMM2, SLC22A5, COX6B1, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, FBN1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, COL3A1, COL1A2, COL1A1, GAA, ATPAF2, ACADVL, AGL, ACADM, ACAD9, AARS2, TTR, HFE Specificity 1 % Genes 15 %
Dilated Cardiomyopathy Panel. By Health in Code in Spain. FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1 , (...) View the complete list with 61 more genes Panel GTR000521471 complete gene list FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3, RYR2, PKP2, ABCC9, KCNJ8, LAMP2, SCN5A, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, PTPN11, GLA, DMD, BRAF, DOLK, ALMS1, SLC22A5, TAZ, DNAJC19, RAF1, CRYAB, DSP, GLB1, EYA4, PSEN1, GAA, TTR, HFE Specificity 3 % Genes 15 %
Skeletal Myopathy Panel. By Health in Code in Spain. CAVIN4, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT , (...) View the complete list with 26 more genes Panel GTR000521472 complete gene list CAVIN4, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, CAPN3, SGCB, SGCA, FKTN, HRAS, DMD, DOLK, PMM2, SLC22A5, SURF1, PHKA1, TAZ, COQ2, AGK, CRYAB, SLC25A4, DLD, GAA, AGL Specificity 5 % Genes 15 %
Cardiomyopathies Panel. By Health in Code in Spain. FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1 , (...) View the complete list with 129 more genes Panel GTR000521478 complete gene list FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, CASQ2, RYR2, ANK2, PKP2, ABCC9, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, SPRED1, LAMP2, KCNQ1, TBX1, FLNA, SCN5A, HCN4, KCNH2, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 2 % Genes 15 %
Cardiovascular Diseases_General Panel. By Health in Code in Spain. CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...) View the complete list with 360 more genes Panel GTR000530651 complete gene list CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1, IRX4, MCTP2, CYP3A5, NKX2-6, MRPL44, KCND2, MED13L, COA6, TRIM63, KLF10, PKP4, LRP6, INSIG2, CYP3A4, TNNI3K, TAB2, SMAD6, TFAP2B, SAR1B, MYLIP, CALM3, ASPH, CALR3, MIB1, TBX20, EIF2AK4, SLCO1B1, CAVIN4, CHRM2, PLTP, LIPC, APOC3, GATA5, ADAMTSL4, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, ZFPM2, AGPAT2, PLIN1, CIDEC, TBC1D4, NOTCH2, GJA5, NPPA, COL7A1, TDGF1, XK, CFC1, INSR, PDGFRA, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, ABCA1, LCAT, ABCG1, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, SCARB1, CETP, ACVR2B, CRELD1, LEFTY2, CITED2, NPC1L1, IER3IP1, EVC, GATA4, GDF1, ZIC3, TMPO, TXNRD2, OBSCN, CYP2D6, ABCG8, ABCG5, B3GAT3, FHL2, GJA1, EP300, TBX5, SALL4, NOS1AP, MFAP5, PRKG1, ZMPSTE24, SPEG, TOR1AIP1, AMPD1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, BMPR2, KCNA5, EFEMP2, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, ACVR1, CHST14, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FOXH1, NODAL, ABCB1, A2ML1, RRAS, RASA2, SPRED1, ZDHHC9, UPF3B, LAMP2, FOXP3, RASA1, LZTR1, CTNNB1, CACNA1C, EHMT1, FOXP1, VCL, MED12, KCNQ1, KCNE1, CACNA1D, TBX1, KANSL1, CACNA2D1, KMT2D, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, RYR1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, PDX1, INS, KCNJ11, CEL, NF1, CAV3, FKRP, NOTCH3, APOE, PSEN2, LMNA, CAPN3, SGCB, SGCA, MTTP, FKTN, ADAMTS2, ENG, SMAD4, BMPR1A, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LIPA, LEP, LDLR, KRAS, HRAS, GLA, FOXF1, DMD, CREBBP, CHD7, BRAF, DOLK, SDHA, COL5A2, COL5A1, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, PYGM, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, MEF2A, GFM1, DNAJC19, TSFM, PNPLA2, SLC25A3, MRPS22, SLC39A13, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, GPD1, LIAS, MRPL3, MTO1, FBN1, OPA3, RAF1, CRYAB, FOXRED1, GCK, SLC25A4, DLD, DSP, PCDH15, NPHP4, JAG1, PITX2, FOXC1, GLB1, GNPTAB, WFS1, CPT2, EYA4, ELN, HNF1B, PSEN1, ELAC2, COL3A1, COL1A2, COL1A1, PPARG, NEUROD1, HNF1A, GAA, B4GALT7, ATPAF2, ATP7A, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HNF4A, HFE Specificity 1 % Genes 15 %
Skeletal myopathy Panel. By Health in Code in Spain. CAVIN4, XK, SPEG, TOR1AIP1, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1 , (...) View the complete list with 37 more genes Panel GTR000530654 complete gene list CAVIN4, XK, SPEG, TOR1AIP1, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, CAPN3, SGCB, SGCA, FKTN, HRAS, DMD, DOLK, SDHA, PMM2, SLC22A5, FXN, SURF1, PHKA1, TAZ, SCO2, COQ2, SLC25A3, CAVIN1, AGK, CRYAB, SLC25A4, DLD, GAA, AGL Specificity 4 % Genes 15 %
Dilated Cardiomyopathy Panel. By Health in Code in Spain. FHOD3, CHRM2, COL7A1, FHL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, EMD, ACTA1 , (...) View the complete list with 19 more genes Panel GTR000530667 complete gene list FHOD3, CHRM2, COL7A1, FHL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, EMD, ACTA1, MYBPC3, BAG3, ANO5, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, DMD, DOLK, ALMS1, TAZ, DNAJC19, CRYAB, DSP, EYA4 Specificity 6 % Genes 15 %
Arrhythmia General Panel. By Health in Code in Spain. GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...) View the complete list with 198 more genes Panel GTR000530668 complete gene list GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, AGPAT2, GJA5, NPPA, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, GJA1, TBX5, NOS1AP, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, KCNK3, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, SCN4B, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, PITX2, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 1 % Genes 15 %
Cardiomyopathies General Panel. By Health in Code in Spain. NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5 , (...) View the complete list with 153 more genes Panel GTR000530674 complete gene list NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5, OBSL1, AGPAT2, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, RYR2, ANK2, PKP2, ABCC9, KCNJ8, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, KCNQ1, SCN5A, HCN4, KCNH2, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 2 % Genes 15 %
Family Prep Screen. By Counsyl in United States. BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3 , (...) View the complete list with 90 more genes Panel GTR000552033 complete gene list BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3, GRHPR, TH, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, NPHS2, CTNS, NEB, HBA2, FKTN, LAMB3, HBA1, CLN8, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, AGA, CLN3, TPP1, BBS1, BBS10, PMM2, SLC22A5, ASS1, GALT, GCDH, PYGM, CBS, IVD, GALC, MAN2B1, CPT1A, AGXT, PAH, CTSK, ALDH3A2, HEXA, MPI, G6PC, FAH, RS1, SLC26A4, SMPD1, OPA3, HADHA, DLD, PCDH15, CLRN1, CNGB3, GNE, CPT2, HSD17B4, SLC37A4, CHM, HBB, GAA, BCS1L, BCKDHB, ATP7B, BTD, ALPL, ALDOB, ACADVL, AGL, ACADS, ACADM, MTHFR, HFE, FMR1, F5, F2 Specificity 2 % Genes 15 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL in Spain. MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...) View the complete list with 280 more genes Panel GTR000552567 complete gene list MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA, F8, F9, JAK3, THRB, F11, PGK1, DNAH5, CHST6, CASQ2, TRDN, THOC2, IL1RAPL1, SLC16A2, BRWD3, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, AFF2, HUWE1, PHF8, MVK, PEX10, NLGN4X, AP1S2, TPRN, TRIOBP, TMIE, PEX6, GJB3, TMC1, PRPS1, TMPRSS3, SLC4A11, STRC, POLR1C, OTOF, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, GRIA3, FGD1, IQSEC2, ATRX, MFSD8, PQBP1, DCX, POMT1, POMT2, TNNT1, SPART, L1CAM, BSND, COL4A4, CYP21A2, GNRHR, KCNJ11, DYSF, FKRP, CLCN1, AHI1, SPG11, ZFYVE26, GDAP1, MTMR2, SH3TC2, NDRG1, TMEM216, PKHD1, LAMC2, CLN5, CAPN3, TTPA, PEX1, MPL, MCOLN1, GRHPR, TH, UGT1A1, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, CTNS, NEB, G6PD, FKTN, LAMB3, HBA1, CLN8, CLN6, NBN, ATM, SMN1, RMRP, POU3F4, PLP1, PLOD1, NPC2, NPC1, LIPA, LDLR, IDUA, IDS, GLA, GJB2, DMD, DHCR7, GBA, FANCC, CFTR, ARX, ASPA, ARSA, AR, AIRE, IL2RG, GNMT, ARSB, AHCY, AGA, ADA, ABCD4, NR2E3, SLC6A8, CYP17A1, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, ALDH4A1, IVD, GALC, SUCLG1, MLYCD, MAN2B1, DBT, MUT, MMAB, MCEE, SGSH, NAGLU, HGSNAT, GNS, GALNS, CPT1A, SURF1, AGXT, PAH, PTS, ACOX1, HEXB, HEXA, LMBRD1, MMADHC, ABCD1, ACSL4, OTC, RP2, AGPS, MYO7A, ETHE1, EYS, AMT, GLDC, PCCB, SPG7, CERKL, ACADSB, CTSD, TSFM, TUFM, HAX1, P3H1, SUCLA2, RDH12, CNGA1, G6PC, TAT, HMGCL, FAH, RS1, CNGB1, PDE6A, DHDDS, PDHB, ACSF3, IDH3B, CDH23, WHRN, SLC26A4, MECP2, CRB1, GUCY2D, RPE65, RPGR, TULP1, FH, HADHA, PANK2, SLC25A13, DLD, PCDH15, USH2A, CLRN1, CEP290, NPHP1, TMEM67, CNGB3, NDP, ABCA4, OCRL, GLB1, GNPTAB, CPT2, CPS1, MTRR, GPR143, TYR, SLC45A2, TYRP1, RAX, HBB, GAA, BCKDHB, BCKDHA, ATP7B, BTD, HLCS, ARG1, USH1C, PC, USH1G, ALDOB, AIPL1, ACAT1, ACADVL, AGL, ACADS, ACADM, CD40LG, LDLRAP1, PCBD1, SLC46A1, EVC2, ABCB11, MCCC2, MCCC1, MTHFR, FMR1, F5, F2 Specificity 2 % Genes 29 %
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel. By Invitae in United States. MYL4, CALM3, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, NKX2-5, TGFB3, ACTC1 , (...) View the complete list with 47 more genes Panel GTR000528500 complete gene list MYL4, CALM3, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, NKX2-5, TGFB3, ACTC1, KCNA5, CASQ2, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 3 % Genes 15 %
Invitae Cardiomyopathy Comprehensive Panel. By Invitae in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2 , (...) View the complete list with 30 more genes Panel GTR000528516 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 4 % Genes 15 %
Invitae Dilated Cardiomyopathy Panel. By Invitae in United States. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 21 more genes Panel GTR000528521 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 5 % Genes 15 %
Invitae Limb-Girdle Muscular Dystrophy Panel. By Invitae in United States. GMPPB, POMK, TNPO3, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA , (...) View the complete list with 10 more genes Panel GTR000551748 complete gene list GMPPB, POMK, TNPO3, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, DMD, PNPLA2, TRIM32, GAA Specificity 27 % Genes 58 %
DYSTROPHIES, CONGENITAL MUSCULAR. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, POMT1, POMT2, SELENON, FKRP, POMGNT1, FKTN Specificity 50 % Genes 43 %
LIMB-GIRDLE MUSCULAR DYSTROPHY. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA , (...) View the complete list with 2 more genes Panel GTR000531495 complete gene list SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32 Specificity 28 % Genes 43 %
LIMB-GIRDLE MUSCULAR DYSTROPHY, A.R.. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, ANO5, DES, TTN, DYSF, FKRP, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32 Specificity 34 % Genes 43 %
Walker-Warburg Syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. LARGE1, ISPD, POMT1, POMT2, FKRP, POMGNT1, FKTN Specificity 100 % Genes 50 %
Fukuyama Congenital Muscular Dystrophy: FKTN Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FKTN Specificity 100 % Genes 8 %
Fukuyama Congenital Muscular Dystrophy: FKTN Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FKTN Specificity 100 % Genes 8 %
Dilated Cardiomyopathy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3 , (...) View the complete list with 19 more genes Panel GTR000512326 complete gene list VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, DMD, TAZ, CRYAB, DSP, TTR Specificity 3 % Genes 8 %
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. AMPD3, TNNI2, AMPD1, RYR2, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, TNNT1, TPM2 , (...) View the complete list with 26 more genes Panel GTR000512422 complete gene list AMPD3, TNNI2, AMPD1, RYR2, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, TNNT1, TPM2, ACTA1, TPM3, RYR1, SELENON, MYOT, ANO5, DES, TTN, SGCE, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DMD, PMM2, PYGM, TRIM32, GNE, GAA Specificity 16 % Genes 50 %
Brain Malformations: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...) View the complete list with 30 more genes Panel GTR000512588 complete gene list RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, RAB3GAP1, PQBP1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, VRK1, FKRP, AHI1, TMEM216, POMGNT1, FKTN, WDR62, ARX, MKS1, RARS2, TUBA1A, CEP290, NPHP1, TMEM67, CC2D2A, TUBB3 Specificity 12 % Genes 43 %
Congenital Disorders of Glycosylation: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PIGM, RPN2, NGLY1, SLC35D1, GALNT3, CHST3, LFNG, MAN1B1, ALG14, PIGL, EXT1, EXT2, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, B3GAT3, CHST6 , (...) View the complete list with 46 more genes Panel GTR000512591 complete gene list PIGM, RPN2, NGLY1, SLC35D1, GALNT3, CHST3, LFNG, MAN1B1, ALG14, PIGL, EXT1, EXT2, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, B3GAT3, CHST6, CHST14, SEC23B, CHSY1, PIGV, PIGA, ST3GAL3, PIGO, ALG13, ST3GAL5, LARGE1, GFPT1, POMT1, POMT2, FKRP, POMGNT1, FKTN, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1, ALG12, ALG8, ALG1, ALG9, COG7, DPM1, MPDU1, TUSC3, COG8, COG1, RFT1, PGM1, DPM3, DHDDS, DDOST, GNE, SRD5A3, ATP6V0A2, B4GALT7 Specificity 10 % Genes 43 %
Expanded Neuromuscular Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. AMPD3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ , (...) View the complete list with 58 more genes Panel GTR000512597 complete gene list AMPD3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, EMD, SYNE1, IGHMBP2, VRK1, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, ACTA1, TPM3, RYR1, SELENON, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SGCE, SCN4A, DYSF, CAV3, FKRP, PABPN1, LMNA, DNM2, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, DMD, PMM2, PYGM, CHAT, CAVIN1, CRYAB, TRIM32, GNE, GAA Specificity 11 % Genes 58 %
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. COL6A1, COL6A3, COL6A2, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, SYNE2, SYNE1, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...) View the complete list with 14 more genes Panel GTR000512605 complete gene list COL6A1, COL6A3, COL6A2, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, SYNE2, SYNE1, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, DMD, VCP, TRIM32, GNE, GAA Specificity 21 % Genes 50 %
Neurology: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...) View the complete list with 144 more genes Panel GTR000512608 complete gene list MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, ATR, PCNT, CDK5RAP2, GLI2, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, EHMT1, LAMC3, ACTG1, ACTB, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, ATRX, KIF1BP, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, DCX, CENPJ, ARFGEF2, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, LARGE1, CACNB4, POMT1, POMT2, VRK1, FGF8, FKRP, AHI1, SCN1A, CSTB, TMEM216, CLN5, POMGNT1, PPT1, FKTN, CLN8, CLN6, PTCH1, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, DHCR7, CDKL5, ARX, CLN3, TPP1, MKS1, ALDH7A1, SLC9A6, SLC25A22, CTSD, RARS2, TUBA1A, STXBP1, GATM, GAMT, LIAS, MECP2, SLC25A19, POLG, SHH, CEP290, ADGRV1, NPHP1, TMEM67, CC2D2A, TUBB3, ADSL, UBE3A Specificity 4 % Genes 43 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD , (...) View the complete list with 127 more genes Panel GTR000523283 complete gene list HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2, CLN5, CAPN3, ABCC8, TTPA, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3, GRHPR, TH, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, NPHS2, CTNS, NEB, HBA2, G6PD, FKTN, LAMB3, HBA1, CLN8, NBN, ATM, SMN1, RMRP, IDUA, IDS, GLA, GJB6, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, ARSB, AGA, CLN3, TPP1, ASL, BBS1, BBS10, PMM2, SLC22A5, ASS1, GALT, GCDH, PYGM, CBS, IVD, GALC, MAN2B1, DBT, MUT, MMAA, MMAB, SGSH, NAGLU, GALNS, GUSB, CPT1A, AGXT, PAH, CTSK, HEXB, ALDH3A2, HEXA, OTC, MPI, G6PC, FAH, RS1, SLC26A4, MECP2, SMPD1, FH, OPA3, HADHA, PANK2, DLD, PCDH15, CLRN1, CNGB3, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, TYR, CHM, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, HFE, FMR1 Specificity 2 % Genes 15 %
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TMEM216, ABCC8, MCOLN1, NEB, FKTN, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, FMR1 Specificity 5 % Genes 8 %
Comprehensive Cardiovascular: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...) View the complete list with 97 more genes Panel GTR000523310 complete gene list CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, SLC22A5, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR Specificity 1 % Genes 8 %
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TMEM216, ABCC8, MCOLN1, NEB, FKTN, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, FMR1 Specificity 5 % Genes 8 %
Brain Malformations: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...) View the complete list with 30 more genes Panel GTR000558548 complete gene list RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, RAB3GAP1, PQBP1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, VRK1, FKRP, AHI1, TMEM216, POMGNT1, FKTN, WDR62, ARX, MKS1, RARS2, TUBA1A, CEP290, NPHP1, TMEM67, CC2D2A, TUBB3 Specificity 12 % Genes 43 %
Cardiomyopathy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 42 more genes Panel GTR000558598 complete gene list VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, TAZ, RAF1, CRYAB, DSP, GAA, TTR Specificity 2 % Genes 8 %
Cardiomyopathy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 45 more genes Panel GTR000558613 complete gene list VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, SLC22A5, TAZ, RAF1, CRYAB, DSP, GAA, TTR Specificity 2 % Genes 8 %
Comprehensive Cardiovascular: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 86 more genes Panel GTR000558799 complete gene list TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, NEBL, PDLIM3, BMPR2, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR Specificity 1 % Genes 8 %
Dilated Cardiomyopathy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, ABCC9, LAMP2 , (...) View the complete list with 17 more genes Panel GTR000558819 complete gene list VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, DMD, TAZ, CRYAB, DSP, TTR Specificity 3 % Genes 8 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PIGM, RPN2, NGLY1, SLC35D1, GALNT3, CHST3, LFNG, MAN1B1, ALG14, PIGL, EXT1, EXT2, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, B3GAT3, CHST6 , (...) View the complete list with 45 more genes Panel GTR000558834 complete gene list PIGM, RPN2, NGLY1, SLC35D1, GALNT3, CHST3, LFNG, MAN1B1, ALG14, PIGL, EXT1, EXT2, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, B3GAT3, CHST6, CHST14, SEC23B, CHSY1, PIGV, PIGA, ST3GAL3, PIGO, ALG13, ST3GAL5, LARGE1, GFPT1, POMT1, POMT2, FKRP, POMGNT1, FKTN, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1, ALG12, ALG8, ALG9, COG7, DPM1, MPDU1, TUSC3, COG8, COG1, RFT1, PGM1, DPM3, DHDDS, DDOST, GNE, SRD5A3, ATP6V0A2, B4GALT7 Specificity 10 % Genes 43 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD , (...) View the complete list with 57 more genes Panel GTR000558837 complete gene list MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, EMD, SYNE1, IGHMBP2, VRK1, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, ACTA1, TPM3, RYR1, SELENON, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SGCE, SCN4A, DYSF, CAV3, FKRP, PABPN1, LMNA, DNM2, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, DMD, PMM2, PYGM, CHAT, CAVIN1, CRYAB, TRIM32, GNE, GAA Specificity 11 % Genes 58 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel. By Integrated Genetics Westborough Integrated Genetics in United States. TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC, CFTR , (...) View the complete list with 18 more genes Panel GTR000530283 complete gene list TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, BBS2, PMM2, GALT, HEXA, G6PC, FAH, DHDDS, SMPD1, DLD, PCDH15, CLRN1, CPT2, BCKDHB, BCKDHA, ATP7B, FMR1 Specificity 3 % Genes 8 %
Walker-Warburg Syndrome. By Integrated Genetics Westborough Integrated Genetics in United States. FKTN Specificity 100 % Genes 8 %
Familial Cardiomyopathy Full Gene Sequencing Panel. By Integrated Genetics Westborough Integrated Genetics in United States. HOPX, APOA1, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...) View the complete list with 26 more genes Panel GTR000530307 complete gene list HOPX, APOA1, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1, TGFB3, MYLK2, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, LDB3, MYH7, DES, CAV3, LMNA, FKTN, GLA, ALMS1, TAZ, DNAJC19, DSP, EYA4, TTR Specificity 3 % Genes 8 %
Ashkenazi Jewish Carrier Testing. By Integrated Genetics Westborough Integrated Genetics in United States. TMEM216, ABCC8, MCOLN1, NEB, FKTN, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, BCKDHA Specificity 6 % Genes 8 %
Inheritest NGS, Comprehensive. By Integrated Genetics Westborough Integrated Genetics in United States. XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA , (...) View the complete list with 120 more genes Panel GTR000551402 complete gene list XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, PEX1, MPL, MCOLN1, LAMA3, GRHPR, SLC35A3, SLC26A2, SACS, PEX7, PPT1, NPHS1, NPHS2, PEX2, CTNS, NEB, MTTP, FKTN, LAMB3, COL4A3, CLN8, ADAMTS2, NBN, ATM, RMRP, NPC2, NPC1, IDUA, IDS, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, IL2RG, ARSB, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC25A20, SLC22A5, ASS1, LRPPRC, GALT, GCDH, CBS, GALC, MAN2B1, MANBA, MUT, MMAA, MMAB, NDUFV1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS7, SURF1, COX15, CTSA, AGXT, PAH, HEXB, ALDH3A2, HEXA, PDHA1, OTC, ETHE1, AMT, GLDC, PCCA, PCCB, GAMT, G6PC, HMGCL, FAH, DHDDS, SMPD1, HADHA, NDUFAF2, FOXRED1, NDUFS4, DLD, PCDH15, CLRN1, GLB1, GNPTAB, CPT2, CPS1, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, HLCS, ALPL, ALDOB, ACAT1, ACADVL, AGL, ACADM, FMR1 Specificity 1 % Genes 8 %
Muscular Dystrophies NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MMEL1, SGCD, TCAP, POMT1, POMT2, DAG1, DNAJB6, EMD, SYNE2, TMEM43, SYNE1, FHL1, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA , (...) View the complete list with 10 more genes Panel GTR000505662 complete gene list MMEL1, SGCD, TCAP, POMT1, POMT2, DAG1, DNAJB6, EMD, SYNE2, TMEM43, SYNE1, FHL1, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, DMD, DPM3, CAVIN1, TRIM32 Specificity 20 % Genes 43 %
Pan-Cardio NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2 , (...) View the complete list with 81 more genes Panel GTR000506437 complete gene list MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, SYNE1, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, PTPN11, GLA, DMD, DOLK, SDHA, FXN, COX15, TAZ, NDUFAF1, MRPL3, RAF1, CRYAB, DSP, JAG1, EYA4, GAA, TTR Specificity 1 % Genes 8 %
Lissencephaly NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. VLDLR, ACTG1, ACTB, PAFAH1B1, RELN, DCX, LARGE1, POMT1, POMT2, FKRP, POMGNT1, FKTN, ARX, TUBA1A Specificity 43 % Genes 43 %
Intellectual Disability NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...) View the complete list with 372 more genes Panel GTR000509442 complete gene list AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1, GLRA1, SLC5A2, TRHR, FAM126A, HOXD10, NGF, AVP, AP1S1, BUB1B, WDR81, UROC1, ERCC5, CAMTA1, CEP41, KIF7, RPGRIP1L, SLC6A4, SATB2, CP, SLX4, ABCG5, FANCG, GNAS, NHP2, CTC1, GNPAT, EFNB1, ALX4, THRB, LHX3, PGK1, KIF11, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, ARID1A, SMARCB1, SMARCA4, ERCC6, SDCCAG8, SLC4A4, LYST, GAN, GLI3, GNPTG, ABCC6, FBN2, NAGA, PCNT, ZIC2, TGIF1, NSUN2, TWIST1, IL1RAPL1, ARHGEF6, NSDHL, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HUWE1, IGBP1, PHF8, CANT1, NLGN3, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, SOX10, ERCC3, ERCC2, SHANK2, SHANK3, LBR, TBX1, GFAP, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, KCNJ10, SAMHD1, SPTAN1, PIGV, DYRK1A, GRIN1, NRXN1, SCN8A, ST3GAL3, ATP13A2, MFSD8, TUBB2B, SRPX2, PAFAH1B1, TUBA8, PQBP1, PIGO, TBC1D24, MBD5, GRIN2A, GABRG2, CHRNA4, KCNQ2, GRIN2B, PRICKLE1, KCTD7, CPA6, ATP1A2, ASPM, MCPH1, ITGA7, LARGE1, LAMA2, FGF14, GRM1, SIL1, SYT14, POMT1, POMT2, DYNC1H1, BIN1, KIF1A, L1CAM, KIF5A, AVPR2, GHR, POU1F1, KCNJ11, FGFR1, NF1, FKRP, AHI1, MAPT, SCN1A, ZFYVE26, ATL1, SPTLC1, MPZ, TMEM216, DPYD, RAPSN, PLA2G6, POMGNT1, MCOLN1, TH, SACS, SLC7A7, SGCA, PEX7, FKTN, PRKAR1A, BRIP1, CDKN1C, NBN, ATM, NIPBL, TSC1, SMC1A, SYNGAP1, TSC2, HDAC8, FGFR2, WDR62, TINF2, SLC2A1, RAI1, PTPN11, PLP1, PCDH19, NPC2, NPC1, MEF2C, KRAS, IDS, FOXG1, DMD, DHCR7, CHD7, CDKL5, GBA, ARX, AR, FGFR3, TSHR, HPD, PDHX, MTFMT, SLC6A8, KIF21A, PPOX, CLN3, SOX2, BBS9, MGAT2, CYP27A1, ASS1, GLYCTK, GALE, GBE1, CBS, SLC25A15, ALDH4A1, SUCLG1, MAN2B1, MANBA, DBT, CYB5R3, NDUFAF5, NDUFS1, NDUFA1, MOCS2, SGSH, GUSB, CTSA, PAH, ACOX1, SLC35C1, HEXB, GM2A, LMBRD1, MMADHC, ABCD1, SLC9A6, AMER1, ACSL4, AIFM1, D2HGDH, STRA6, MYO7A, MPI, ALG6, ALG12, AP3B1, COG7, GFM1, HAX1, TUSC3, DARS2, TUBA1A, STXBP1, SPR, GAMT, SLC25A12, PHKG2, PYGL, XPNPEP3, PHKA2, TMEM70, ALDH18A1, PDSS1, FBN1, MECP2, SLC25A13, GCK, HSPD1, CEP290, MKKS, NPHP3, TMEM67, NDP, ELOVL4, HSD17B10, SRD5A3, CC2D2A, GNPTAB, PYCR1, ACY1, TBCE, SLC5A5, WRN, ORC1, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, MED23, TECR, CACNG2, CRADD, MED17, CCDC88C, PDE4D, ZFP57, HEPACAM, PIGL, TTC37, GSS, STAT5B, LIG4, NHEJ1, G6PC3, STX11, ERCC8, INSR, MYO5A, DHCR24, RFX6, SLC2A2, APOB, MAT1A, SLC20A2, TPK1, SLC46A1, TMEM165, COG5, ALG11, VLDLR, MYCN, RBBP8, CPS1, MTR, TUBB3, PAX6, COL1A2, LRP5, FBLN5, ADSL, BCS1L, AUH, ATP7A, ARG1, GYS2, ACAT1, AGL, MCCC2, MCCC1, PTEN, UBE3A, TTR, MTHFR, FMR1, F5, BRCA2 Specificity 2 % Genes 43 %
Neuromuscular NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AMPD3, TNNI2, AMPD1, RYR2, PEX5, PEX12, PEX26, PEX3, PEX14, PEX6, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, SGCD, TCAP, POMT1 , (...) View the complete list with 30 more genes Panel GTR000509454 complete gene list AMPD3, TNNI2, AMPD1, RYR2, PEX5, PEX12, PEX26, PEX3, PEX14, PEX6, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, TNNT1, TPM2, ACTA1, TPM3, RYR1, SELENON, MYOT, ANO5, DES, TTN, SGCE, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, PEX1, SGCB, SGCA, PEX2, NEB, FKTN, DMD, PMM2, TRIM32 Specificity 12 % Genes 43 %
Sudden Death Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN , (...) View the complete list with 48 more genes Panel GTR000510871 complete gene list LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, TGFB3, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, FBN2, TGFBR2, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, TAZ, FBN1, SLC25A4, DSP, EYA4, PSEN1 Specificity 2 % Genes 8 %
Dystroglycan-Related Congenital Muscular Dystrophy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GOSR2, LARGE1, POMGNT2, B4GAT1, ISPD, POMT1, POMT2, DAG1, FKRP, POMGNT1, FKTN, DPM1, DPM3 Specificity 77 % Genes 72 %
Hypertrophic Cardiomyopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...) View the complete list with 43 more genes Panel GTR000515895 complete gene list TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, MAP2K2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, TAZ, RAF1, CRYAB, DSP, TTR Specificity 2 % Genes 8 %
Syndromic Congenital Muscular Dystrophy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. LARGE1, POMT1, POMT2, POMGNT1, FKTN Specificity 100 % Genes 36 %
FKTN. By Fulgent Genetics Fulgent Genetics in United States. FKTN Specificity 100 % Genes 8 %
Cardiomyopathy Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK , (...) View the complete list with 135 more genes Panel GTR000552712 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, TGFB3, ACTC1, CASQ2, RYR2, PKP2, ABCC9, ABCC6, RRAS, RASA2, SPRED1, LAMP2, LZTR1, VPS13A, EEF1A2, SCN5A, HCN4, LARGE1, LAMA2, SMCHD1, ISPD, SGCD, TCAP, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 3 % Genes 29 %
Lissencephaly Panel. By Blueprint Genetics in Finland. YWHAE, LAMB1, TUBG1, KATNB1, VLDLR, ACTG1, ACTB, TUBB2B, PAFAH1B1, RELN, DCX, LARGE1, POMGNT2, ISPD, POMT1, FKTN, ARX, TUBA1A, ATP6V0A2 Specificity 27 % Genes 36 %
Arthrogryposes Panel. By Blueprint Genetics in Finland. CHUK, ERCC5, VIPAS39, VPS33B, DHCR24, MYH8, ERCC6, ERBB3, RIPK4, ECEL1, MYBPC1, ZBTB42, CNTNAP1, ADGRG6, PIEZO2, MYH3, TNNT3, TNNI2, GLE1, TGFB3 , (...) View the complete list with 49 more genes Panel GTR000552659 complete gene list CHUK, ERCC5, VIPAS39, VPS33B, DHCR24, MYH8, ERCC6, ERBB3, RIPK4, ECEL1, MYBPC1, ZBTB42, CNTNAP1, ADGRG6, PIEZO2, MYH3, TNNT3, TNNI2, GLE1, TGFB3, CHST14, FBN2, FLVCR2, NALCN, TSEN2, EXOSC3, ZC4H2, CHRNG, KAT6B, CASK, TSEN54, COL6A2, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, VRK1, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, ACTA1, TPM3, KLHL40, SELENON, FHL1, EGR2, MPZ, TRPV4, RAPSN, NEB, FKTN, DOK7, CHRNE, GBA, DPAGT1, PMM2, GBE1, CHAT, SCO2, PLOD2, TK2, RARS2, FKBP10 Specificity 2 % Genes 8 %
Comprehensive Cardiology Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...) View the complete list with 165 more genes Panel GTR000552682 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1, CTNNA3, SCN10A, ENPP1, NUP155, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, SALL4, NOS1AP, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, NKX2-5, PRDM16, TGFB3, ACTC1, KCNA5, AKAP9, CASQ2, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, CACNB2, SCN3B, ABCC9, TRPM4, ABCC6, ACTA2, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNQ1, KCNE1, VPS13A, EEF1A2, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LARGE1, LAMA2, KCNJ2, SMCHD1, ISPD, SGCD, TCAP, POMT1, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 3 % Genes 36 %
Comprehensive Metabolism Panel. By Blueprint Genetics in Finland. PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...) View the complete list with 414 more genes Panel GTR000552745 complete gene list PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1, EGF, SSR4, CNNM2, GPHN, PCK1, HMBS, TRPM6, UROD, SLC5A1, FMO3, LCT, HGD, UMPS, FXYD2, SLC7A9, PEX11B, GYG1, PEPD, FLNB, CLDN19, CLDN16, RBCK1, SLC6A19, ACY1, SLC30A10, ECHS1, LIPT1, CLPB, SERAC1, FAM111A, MAN1B1, SLC25A1, REN, AGPAT2, PLIN1, TBC1D4, LIPE, HJV, HAMP, TFR2, SI, SLC40A1, SLC39A4, INSR, TPMT, B3GLCT, PTF1A, AKT2, SLC2A2, HADH, PCBD1, SLC46A1, TMEM165, COG5, COG6, ALG11, COG4, NBAS, TRIM37, GNPAT, CD320, PGK1, ADAR, IFIH1, ZMPSTE24, MYH3, AMPD1, FBXL4, PRKAG2, CAV1, CNNM4, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, EBP, MAGT1, LAMP2, HCFC1, SEC23B, NEU1, UROS, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, PRPS1, COL11A2, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, ATP13A2, MFSD8, FLNA, ASAH1, ALG13, EPM2A, FOLR1, SLC35A2, NHLRC1, DPM2, LAMA2, ANO10, KCNA1, KCNJ2, RYR1, CACNA1S, BSCL2, CASR, KCNJ11, GCH1, SCN4A, DYSF, COQ4, CAV3, FKRP, CLCN1, LMNA, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, SLC7A7, SERPINA1, PEX7, PPT1, PEX2, CTNS, FKTN, CLN8, CLN6, GPC3, SLC2A1, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, PNP, HPD, GNMT, MOGS, DPAGT1, DOLK, SUGCT, ARSB, APRT, AHCY, AGA, ADA, ABCD4, PDHX, SLC6A8, CPOX, PPOX, FECH, CLN3, TPP1, GLRX5, ASL, APTX, PMM2, MGAT2, SLC25A20, SLC22A5, ASS1, SLC3A1, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CBS, L2HGDH, NAGS, SLC25A15, IVD, OXCT1, GALC, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFS1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, ISCU, CTSA, MPV17, OAT, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, LPIN1, HEXB, ALDH5A1, SUOX, GM2A, HEXA, TCN2, LMBRD1, MMADHC, XDH, ABCD1, PHKA1, TAZ, TIMM8A, PDHA1, OTC, AGPS, D2HGDH, ALG3, MPI, TYMP, ALG6, SLC35A1, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, ALG2, LDB3, MYOT, ANO5, CLCNKB, BSND, SLC12A3, UMOD, HNF4A, PDX1, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, GFM1, MPDU1, TK2, ACADSB, CTSD, POLG2, PNPLA2, SLC25A3, TUSC3, COG8, COG1, ACAD8, GYS1, RFT1, COQ8A, SUCLA2, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, TMEM126A, PHKG2, CAVIN1, IDH2, G6PC, PYGL, TAT, HMGCL, FAH, PHKA2, NFU1, SARS2, DHDDS, TMEM70, PDHB, ACSF3, BOLA3, DGUOK, DNM1L, AGK, LIAS, DDOST, DHODH, COQ6, PDSS1, PDSS2, COQ9, SMPD1, FH, OPA3, HADHA, MFN2, SLC25A13, ALAS2, NDUFAF2, RRM2B, FOXRED1, GCK, SLC25A4, POLG, DLD, HPRT1, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, GLB1, GNPTAB, PSAP, WFS1, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, SLC37A4, MTR, HNF1B, AMN, COL2A1, PPARG, MMACHC, HNF1A, ADSL, GAA, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATP7B, BTD, HLCS, ARG1, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, MCCC2, MCCC1, MTHFR, HFE Specificity 1 % Genes 15 %
Metabolic Myopathy and Rhabdomyolysis Panel. By Blueprint Genetics in Finland. TANGO2, FLAD1, GYG1, RBCK1, PGK1, MYH3, AMPD1, RYR1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, AHCY, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB , (...) View the complete list with 32 more genes Panel GTR000552758 complete gene list TANGO2, FLAD1, GYG1, RBCK1, PGK1, MYH3, AMPD1, RYR1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, AHCY, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, ISCU, PGAM2, LPIN1, PHKA1, TYMP, COQ2, HADHB, TK2, POLG2, GYS1, COQ8A, SUCLA2, ENO3, LDHA, PGM1, OPA3, HADHA, RRM2B, POLG, OPA1, CPT2, GAA, TWNK, ALDOA, ACADVL, AGL, ACADM, ACADL, ACAD9 Specificity 4 % Genes 15 %
Dilated Cardiomyopathy (DCM) Panel. By Blueprint Genetics in Finland. PLEKHM2, LRRC10, FBXO32, GATAD2A, MYBPHL, HAND1, FOXD4, RMND1, MYL4, TNNI3K, TAB2, ALPK3, TBX20, RBCK1, EPG5, GATA6, APOA1, TBX5, VCL, SPEG , (...) View the complete list with 50 more genes Panel GTR000552621 complete gene list PLEKHM2, LRRC10, FBXO32, GATAD2A, MYBPHL, HAND1, FOXD4, RMND1, MYL4, TNNI3K, TAB2, ALPK3, TBX20, RBCK1, EPG5, GATA6, APOA1, TBX5, VCL, SPEG, TOR1AIP1, DSC2, ACTN2, RBM20, JPH2, TNNT2, TPM1, JUP, DSG2, PLN, MYH6, TNNI3, TNNC1, PRDM16, ACTC1, PKP2, ABCC9, ABCC6, LAMP2, VPS13A, EEF1A2, SCN5A, HCN4, TCAP, EMD, ACTA1, MYBPC3, BAG3, FLNC, MYH7, DES, TTN, DYSF, LMNA, FKTN, DMD, DOLK, ALMS1, ETFDH, ETFA, ETFB, GBE1, MLYCD, TAZ, PCCA, PCCB, RAF1, DSP, GLB1, TTR Specificity 2 % Genes 8 %
Cardiomyopathy, dilated type 1X. By Bioarray in Spain. FKTN Specificity 100 % Genes 8 %
Congenital muscular dystrophy, Fukuyama type. By Bioarray in Spain. FKTN Specificity 100 % Genes 8 %
Walker-Warburg syndrome. By Bioarray in Spain. FKTN Specificity 100 % Genes 8 %
CarrierMap. By Recombine in United States. VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...) View the complete list with 281 more genes Panel GTR000528277 complete gene list VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37, EDA, CIITA, COL7A1, SLC39A4, ERCC8, RAG2, VSX2, EIF2AK3, LPL, EVC2, EVC, FANCG, FANCA, F8, F9, SRD5A2, MEFV, TECPR2, ERCC6, DNAI1, DNAI2, LYST, CTSC, EXOSC3, POR, RAB23, CHRNG, PEX10, LOXHD1, PEX6, PRPS1, SLC4A11, MYO15A, ATP6V1B1, VPS13A, VPS13B, MFSD8, TSEN54, SGCD, EMD, VRK1, MTM1, COL4A5, BSND, SLC12A3, COL4A4, CYP21A2, KCNJ11, LHCGR, DYSF, FKRP, NTRK1, GJB1, TMEM216, TGM1, RAPSN, PKHD1, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, BRIP1, NBN, ATM, SMN1, RMRP, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AR, AIRE, IL2RG, ARSB, AGA, ADA, NR2E3, CYP17A1, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, BBS12, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, GALK1, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, CBS, SLC25A15, IVD, GALC, MLYCD, MAN2B1, DBT, MUT, MMAA, MMAB, NDUFS6, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, MPV17, TCIRG1, AGXT, PAH, PTS, ACOX1, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, PDHA1, OTC, PUS1, MYO7A, ETHE1, MPI, TYMP, ALG6, LCA5, AMT, GLDC, PCCA, PCCB, CERKL, HADHB, HAX1, RARS2, RDH12, GAMT, G6PC, TAT, FAM161A, HSD3B2, HMGCL, FAH, RS1, DHDDS, HPS3, PDHB, HPS1, CDH23, SLC26A4, CYP11B2, SMPD1, GUCY2D, RLBP1, RPE65, FH, OPA3, HADHA, SLC25A13, CYP11B1, POLG, DLD, PCDH15, USH2A, TRIM32, CLRN1, CEP290, CYP1B1, ABCA4, OCRL, GNE, GLB1, GNPTAB, TRMU, CPT2, HSD17B4, ABCA12, SLC37A4, TYR, CHM, SLC45A2, STAR, TYRP1, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, USH1C, PC, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, ABCB11, MCCC2, MCCC1, HPS4, MTHFR, FMR1 Specificity 1 % Genes 22 %
Cardiomyopathy Exome Panel. By Northwest Clinical Genomics Laboratory University of Washington in United States. CAVIN4, CHRM2, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 55 more genes Panel GTR000551457 complete gene list CAVIN4, CHRM2, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, TRDN, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, TAZ, RAF1, CRYAB, DSP, PSEN1, GAA, TTR Specificity 2 % Genes 8 %
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. CALR3, MIB1, TBX20, GATA6, TBX5, VCL, DTNA, MYL3, MYL2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN , (...) View the complete list with 33 more genes Panel GTR000558288 complete gene list CALR3, MIB1, TBX20, GATA6, TBX5, VCL, DTNA, MYL3, MYL2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, LAMA4, MYLK2, ACTC1, ABCC9, LAMP2, SCN5A, HCN4, SGCD, TCAP, MYBPC3, BAG3, LDB3, FLNC, MYH7, DES, TTN, PSEN2, LMNA, FKTN, DMD, TAZ, MRPL3, RAF1, CRYAB, DSP, EYA4, PSEN1 Specificity 2 % Genes 8 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. GMPPB, HNRNPDL, TNPO3, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3 , (...) View the complete list with 6 more genes Panel GTR000558243 complete gene list GMPPB, HNRNPDL, TNPO3, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32 Specificity 24 % Genes 43 %
MUSCULAR DYSTROPHY, FUKUYAMA CONGENITAL. By Laboratorio de Genetica Clinica SL in Spain. FKTN Specificity 100 % Genes 8 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M. By Laboratorio de Genetica Clinica SL in Spain. FKTN Specificity 100 % Genes 8 %
WALKER - WALBURG SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. POMT1, POMT2, FKRP, FKTN Specificity 100 % Genes 29 %
Limb-girdle muscular dystrophy panel. By LifeLabs Genetics in Canada. SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA , (...) View the complete list with 2 more genes Panel GTR000553066 complete gene list SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32 Specificity 28 % Genes 43 %
Autosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 17 Genes. By Reference Laboratory Genetics in Spain. SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, ANO5, TTN, DYSF, FKRP, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32 Specificity 36 % Genes 43 %
Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes. By Reference Laboratory Genetics in Spain. SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA , (...) View the complete list with 2 more genes Panel GTR000559676 complete gene list SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32 Specificity 28 % Genes 43 %
Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes. By Reference Laboratory Genetics in Spain. ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, POMT1, POMT2, SELENON, FKRP, POMGNT1, FKTN Specificity 50 % Genes 43 %
Dystroglycanopathies , Panel Massive Sequencing (NGS) 9 Genes. By Reference Laboratory Genetics in Spain. LARGE1, B4GAT1, ISPD, POMT1, POMT2, DAG1, FKRP, POMGNT1, FKTN Specificity 100 % Genes 65 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes. By Reference Laboratory Genetics in Spain. AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7 , (...) View the complete list with 91 more genes Panel GTR000559873 complete gene list AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, EMD, SYNE2, TMEM43, SYNE1, IGHMBP2, VRK1, DYNC1H1, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, ACTA1, TPM3, RYR1, CACNA1S, SELENON, FHL1, BAG3, BSCL2, ATP2A1, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SGCE, TOR1A, SCN4A, DYSF, UBA1, CAV3, FKRP, PABPN1, CLCN1, LMNA, DNM2, TRPV4, RAPSN, CAPN3, SGCG, POMGNT1, PEX1, SGCB, SGCA, PEX7, PEX2, NEB, FKTN, DOK7, CHRNE, DMD, PMM2, PYGM, CHAT, PHKA1, DPM1, PNPLA2, DPM3, CAVIN1, VCP, CRYAB, TRIM32, GNE, GAA Specificity 8 % Genes 58 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes. By Reference Laboratory Genetics in Spain. ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1 , (...) View the complete list with 75 more genes Panel GTR000559968 complete gene list ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, LAMA4, TGFB3, MYLK2, ACTC1, KCNA5, TP63, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, NOTCH1, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, HCN1, SCN1B, KCNH2, CACNA1H, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, PHOX2B, PTPN11, DMPK, DMD, TAZ, PHOX2A, DNAJC19, TSFM, SLC25A3, DNM1L, CRYAB, DSP, PITX2, EYA4, RET, TTR Specificity 2 % Genes 8 %
planTrue Extended. By True Health Diagnostics in United States. HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS , (...) View the complete list with 61 more genes Panel GTR000561192 complete gene list HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS, NEB, HBA2, FKTN, HBA1, ATM, SMN1, RMRP, NPC1, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, AGA, TPP1, BBS1, MKS1, PMM2, SLC22A5, LRPPRC, GALT, GCDH, CBS, PAH, CYP27B1, HEXB, ALDH3A2, HEXA, ABCD1, MYO7A, G6PC, FAH, RS1, CDH23, SLC26A4, SMPD1, DLD, PCDH15, CLRN1, NPHP1, GLB1, GNPTAB, HBB, GAA, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, USH1C, ALDOB, ACADVL, AGL, ACADM, FMR1 Specificity 3 % Genes 15 %
planTrue Standard. By True Health Diagnostics in United States. TMEM216, ABCC8, MCOLN1, NEB, HBA2, FKTN, HBA1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXB, HEXA, G6PC, SMPD1, DLD, PCDH15 , (...) View the complete list with 3 more genes Panel GTR000561245 complete gene list TMEM216, ABCC8, MCOLN1, NEB, HBA2, FKTN, HBA1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXB, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, HBB, BCKDHB Specificity 5 % Genes 8 %
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 28 more genes Panel GTR000558334 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, DMD, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, RAF1, CRYAB, DSP, CPT2, EYA4, ACADVL, TTR Specificity 5 % Genes 15 %
Phosphorus Pan Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 32 more genes Panel GTR000558336 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, LAMP2, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 4 % Genes 15 %
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 40 more genes Panel GTR000558337 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, LAMP2, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 4 % Genes 15 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 49 more genes Panel GTR000558339 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 3 % Genes 15 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 50 more genes Panel GTR000558340 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 3 % Genes 15 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 67 more genes Panel GTR000558341 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 3 % Genes 15 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 75 more genes Panel GTR000558342 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 3 % Genes 15 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 57 more genes Panel GTR000558343 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 3 % Genes 15 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 58 more genes Panel GTR000558344 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 3 % Genes 15 %
Phosphorus Dilated Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 22 more genes Panel GTR000558272 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 5 % Genes 15 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2 , (...) View the complete list with 116 more genes Panel GTR000560383 complete gene list HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2, CLN5, CAPN3, ABCC8, TTPA, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3, GRHPR, TH, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, NPHS2, CTNS, NEB, FKTN, LAMB3, CLN8, NBN, ATM, SMN1, RMRP, NPC2, NPC1, IDUA, GJB6, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, ARSB, AGA, CLN3, TPP1, ASL, BBS1, BBS10, PMM2, SLC22A5, ASS1, GALT, GCDH, PYGM, CBS, IVD, GALC, MAN2B1, DBT, MUT, MMAA, MMAB, SGSH, NAGLU, GALNS, GUSB, CPT1A, AGXT, PAH, CTSK, HEXB, ALDH3A2, HEXA, MPI, G6PC, FAH, SLC26A4, SMPD1, FH, OPA3, HADHA, PANK2, DLD, PCDH15, CLRN1, CNGB3, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, TYR, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, HFE Specificity 2 % Genes 15 %
Dystroglycanopathies via POMK Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. POMK Specificity 100 % Genes 8 %
Limb-girdle muscular dystrophy, autosomal recessive type 12C. By Centogene AG - the Rare Disease Company in Germany. POMK Specificity 100 % Genes 8 %
Muscle-eye-brain disease, POMK related. By Centogene AG - the Rare Disease Company in Germany. POMK Specificity 100 % Genes 8 %
POMK. By MVZ Dortmund Dr. Eberhard & Partner in Germany. POMK Specificity 100 % Genes 8 %
POMK. By Fulgent Genetics Fulgent Genetics in United States. POMK Specificity 100 % Genes 8 %
Test for POMT1-Related Muscle Diseases. By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. POMT1 Specificity 100 % Genes 8 %
POMT1. By Institute for Human Genetics University Clinic Freiburg in Germany. POMT1 Specificity 100 % Genes 8 %
POMT1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. POMT1 Specificity 100 % Genes 8 %
Walker-Warburg syndrome (sequence analysis of POMT1 gene). By CGC Genetics in Portugal. POMT1 Specificity 100 % Genes 8 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes). By CGC Genetics in Portugal. VPS53, CLP1, BUB1B, TUBGCP6, SEPSECS, AMPD2, NIN, CEP63, KNL1, CEP135, ZNF335, MED17, KIF2A, KIF5C, TUBG1, LIG4, NHEJ1, RBBP8, IER3IP1, EFTUD2 , (...) View the complete list with 32 more genes Panel GTR000525192 complete gene list VPS53, CLP1, BUB1B, TUBGCP6, SEPSECS, AMPD2, NIN, CEP63, KNL1, CEP135, ZNF335, MED17, KIF2A, KIF5C, TUBG1, LIG4, NHEJ1, RBBP8, IER3IP1, EFTUD2, KIF11, STAMBP, AP4M1, CHMP1A, ATR, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34, EXOSC3, CASK, OPHN1, PNKP, DYRK1A, TUBB2B, STIL, PAFAH1B1, TSEN54, PQBP1, NDE1, CENPJ, MBD5, ASPM, MCPH1, POMT1, VRK1, DYNC1H1, WDR62, RARS2, DNM1L, SLC25A19 Specificity 2 % Genes 8 %
Lissencephaly (NGS panel for 12 genes). By CGC Genetics in Portugal. YWHAE, LAMB1, KATNB1, CDK5, PAFAH1B1, RELN, NDE1, DCX, POMT1, POMT2, ARX, TUBA1A Specificity 17 % Genes 15 %
POMT1 Sequencing. By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics in United States. POMT1 Specificity 100 % Genes 8 %
Walker-Warburg Syndrome via POMT1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. POMT1 Specificity 100 % Genes 8 %
Hydrocephalus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. HDAC6, EML1, WDR81, MPDZ, CCDC88C, CRB2, CCND2, AKT3, PIK3R2, ZIC3, P4HB, DNAI1, FLVCR2, AP1S2, POMT1, L1CAM, PTEN Specificity 6 % Genes 8 %
Limb-girdle muscular dystrophy, autosomal recessive type 2N. By Centogene AG - the Rare Disease Company in Germany. POMT1 Specificity 100 % Genes 8 %
Limb-girdle muscular dystrophy, autosomal recessive type 2K. By Centogene AG - the Rare Disease Company in Germany. POMT1 Specificity 100 % Genes 8 %
Microcephaly panel. By Centogene AG - the Rare Disease Company in Germany. MSMO1, NR2E1, TUBGCP6, CEP63, CEP135, NHEJ1, AKT3, IER3IP1, EFTUD2, KIF11, AP4M1, PCNT, CDK5RAP2, CEP152, CASK, PNKP, TUBB2B, STIL, PAFAH1B1, NDE1 , (...) View the complete list with 7 more genes Panel GTR000515358 complete gene list MSMO1, NR2E1, TUBGCP6, CEP63, CEP135, NHEJ1, AKT3, IER3IP1, EFTUD2, KIF11, AP4M1, PCNT, CDK5RAP2, CEP152, CASK, PNKP, TUBB2B, STIL, PAFAH1B1, NDE1, CENPJ, ASPM, MCPH1, POMT1, WDR62, DNM1L, SLC25A19 Specificity 4 % Genes 8 %
Limb girdle muscular dystrophy 2K. By MVZ Dortmund Dr. Eberhard & Partner in Germany. POMT1 Specificity 100 % Genes 8 %
Microcephaly. By Asper Biogene Asper Biogene LLC in Estonia. TUBGCP6, CEP63, KNL1, CEP135, NHEJ1, IER3IP1, EFTUD2, KIF11, AP4M1, PCNT, CDK5RAP2, CEP152, CASK, PNKP, TUBB2B, STIL, PAFAH1B1, NDE1, CENPJ, ASPM , (...) View the complete list with 4 more genes Panel GTR000527475 complete gene list TUBGCP6, CEP63, KNL1, CEP135, NHEJ1, IER3IP1, EFTUD2, KIF11, AP4M1, PCNT, CDK5RAP2, CEP152, CASK, PNKP, TUBB2B, STIL, PAFAH1B1, NDE1, CENPJ, ASPM, MCPH1, POMT1, WDR62, SLC25A19 Specificity 5 % Genes 8 %
POMT1-Related Muscle Diseases. By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. POMT1 Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy A1. By Praxis fuer Humangenetik Wien in Austria. POMT1 Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy B1. By Praxis fuer Humangenetik Wien in Austria. POMT1 Specificity 100 % Genes 8 %
Muscular dystrophy, limb-girdle 2K. By Praxis fuer Humangenetik Wien in Austria. POMT1 Specificity 100 % Genes 8 %
POMT1 Gene Sequencing. By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia. POMT1 Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy A1. By MedGene in Slovakia. POMT1 Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy B1. By MedGene in Slovakia. POMT1 Specificity 100 % Genes 8 %
Muscular dystrophy, limb-girdle 2K. By MedGene in Slovakia. POMT1 Specificity 100 % Genes 8 %
Glaucoma (Advance). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. OLFM2, LOXL1, NTF4, OPTC, COL8A2, COL18A1, WDR36, PRSS56, VSX2, SH3PXD2B, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC , (...) View the complete list with 14 more genes Panel GTR000531647 complete gene list OLFM2, LOXL1, NTF4, OPTC, COL8A2, COL18A1, WDR36, PRSS56, VSX2, SH3PXD2B, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC, LMX1B, CA4, RPGRIP1, RRM2B, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PITX3, PAX6, BEST1, TTR, MTHFR Specificity 6 % Genes 15 %
Walker-Warburg Syndrome: POMT1 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. POMT1 Specificity 100 % Genes 8 %
Walker-Warburg Syndrome: POMT1 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. POMT1 Specificity 100 % Genes 8 %
Glaucoma NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. LOXL1, NTF4, COL18A1, WDR36, SLC4A4, LTBP2, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC, LMX1B, CA4, RRM2B, CYP1B1, FOXC1, OPA1, OPTN , (...) View the complete list with 5 more genes Panel GTR000509426 complete gene list LOXL1, NTF4, COL18A1, WDR36, SLC4A4, LTBP2, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC, LMX1B, CA4, RRM2B, CYP1B1, FOXC1, OPA1, OPTN, PITX3, PAX6, BEST1, TTR, MTHFR Specificity 8 % Genes 15 %
Microcephaly NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MSMO1, NR2E1, BUB1B, TUBGCP6, CEP63, CEP135, MED17, LIG4, NHEJ1, AKT3, IER3IP1, EFTUD2, KIF11, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34, CASK, PNKP , (...) View the complete list with 15 more genes Panel GTR000509449 complete gene list MSMO1, NR2E1, BUB1B, TUBGCP6, CEP63, CEP135, MED17, LIG4, NHEJ1, AKT3, IER3IP1, EFTUD2, KIF11, PCNT, CDK5RAP2, CEP152, TSEN2, TSEN34, CASK, PNKP, TUBB2B, STIL, PAFAH1B1, TSEN54, PQBP1, NDE1, CENPJ, MCPH1, POMT1, VRK1, MRE11, WDR62, RARS2, DNM1L, SLC25A19 Specificity 3 % Genes 8 %
POMT1. By Fulgent Genetics Fulgent Genetics in United States. POMT1 Specificity 100 % Genes 8 %
Microcephaly and Pontocerebellar Hypoplasia Panel. By Blueprint Genetics in Finland. WDR73, TUBGCP6, TUBGCP4, SEPSECS, AMPD2, PLK4, XRCC4, CEP63, MFSD2A, KATNB1, RTTN, LIG4, NHEJ1, AKT3, MYCN, EFTUD2, KIF11, STAMBP, CENPF, ATR , (...) View the complete list with 28 more genes Panel GTR000552690 complete gene list WDR73, TUBGCP6, TUBGCP4, SEPSECS, AMPD2, PLK4, XRCC4, CEP63, MFSD2A, KATNB1, RTTN, LIG4, NHEJ1, AKT3, MYCN, EFTUD2, KIF11, STAMBP, CENPF, ATR, PCNT, CDK5RAP2, CEP152, TSEN2, EXOSC3, CASK, OPHN1, PNKP, DYRK1A, KANSL1, TUBB2B, STIL, PAFAH1B1, TSEN54, PQBP1, NDE1, CENPJ, MBD5, ASPM, MCPH1, POMT1, VRK1, DYNC1H1, PHGDH, MRE11, WDR62, GFM1, RARS2 Specificity 3 % Genes 8 %
Walker-Warburg syndrome. By Bioarray in Spain. POMT1 Specificity 100 % Genes 8 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K (AUT. RECESSIVE) - INTELLECTUAL DEFICIT. By Laboratorio de Genetica Clinica SL in Spain. POMT1 Specificity 100 % Genes 8 %
Test for POMT2-Related Muscle Diseases. By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. POMT2 Specificity 100 % Genes 8 %
POMT2. By Institute for Human Genetics University Clinic Freiburg in Germany. POMT2 Specificity 100 % Genes 8 %
POMT2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. POMT2 Specificity 100 % Genes 8 %
Walker-Warburg syndrome (sequence analysis of POMT2 gene). By CGC Genetics in Portugal. POMT2 Specificity 100 % Genes 8 %
POMT2 Sequencing. By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics in United States. POMT2 Specificity 100 % Genes 8 %
Walker-Warburg Syndrome via POMT2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. POMT2 Specificity 100 % Genes 8 %
Walker-Warburg syndrome. By Centogene AG - the Rare Disease Company in Germany. POMT2 Specificity 100 % Genes 8 %
Limb girdle muscular dystrophy 2N. By MVZ Dortmund Dr. Eberhard & Partner in Germany. POMT2 Specificity 100 % Genes 8 %
Limb girdle muscular dystrophy 2N. By MVZ Dortmund Dr. Eberhard & Partner in Germany. POMT2 Specificity 100 % Genes 8 %
POMT2-Related Muscle Diseases. By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. POMT2 Specificity 100 % Genes 8 %
Muscular dystrophy, limb-girdle 2N. By Praxis fuer Humangenetik Wien in Austria. POMT2 Specificity 100 % Genes 8 %
Muscular dystrophy, limb-girdle 2N. By MedGene in Slovakia. POMT2 Specificity 100 % Genes 8 %
Walker-Warburg Syndrome: POMT2 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. POMT2 Specificity 100 % Genes 8 %
Walker-Warburg Syndrome: POMT2 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. POMT2 Specificity 100 % Genes 8 %
POMT2. By Fulgent Genetics Fulgent Genetics in United States. POMT2 Specificity 100 % Genes 8 %
Walker-Warburg syndrome relacionado con POMT2. By Bioarray in Spain. POMT2 Specificity 100 % Genes 8 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2N. By Laboratorio de Genetica Clinica SL in Spain. POMT2 Specificity 100 % Genes 8 %
Walker-Warburg Syndrome , Sequencing POMT2 Gene. By Reference Laboratory Genetics in Spain. POMT2 Specificity 100 % Genes 8 %
Retinitis Pigmentosa Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, IFT140, MVK, OFD1, POMGNT1, ROM1, PRPF3, NR2E3 , (...) View the complete list with 72 more genes Panel GTR000556332 complete gene list ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, IFT140, MVK, OFD1, POMGNT1, ROM1, PRPF3, NR2E3, MAK, RP9, CLN3, BBS2, BBS1, CYP4V2, HK1, RP2, PRPF8, PRPF31, CA4, EYS, LCA5, C1QTNF5, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RD3, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, PRPH2, USH2A, TTC8, CLRN1, CEP290, ARL6, MFRP, ABCA4, RP1, CHM, PRKCG, SPATA7, NEUROD1, BEST1, AIPL1, ZNF513, ABHD12 Specificity 2 % Genes 8 %
Test for POMGNT1-Related Muscle Diseases. By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. POMGNT1 Specificity 100 % Genes 8 %
POMGNT1. By Institute for Human Genetics University Clinic Freiburg in Germany. POMGNT1 Specificity 100 % Genes 8 %
POMGNT1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. POMGNT1 Specificity 100 % Genes 8 %
Muscle-eye-brain disease (sequence analysis of POMGNT1 gene). By CGC Genetics in Portugal. POMGNT1 Specificity 100 % Genes 8 %
Muscle-eye-brain disease. By Laboratory of Genetics HUSLAB in Finland. POMGNT1 Specificity 100 % Genes 8 %
POMGNT1 Sequencing. By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics in United States. POMGNT1 Specificity 100 % Genes 8 %
Walker-Warburg Syndrome via the POMGNT1 Gene. By PreventionGenetics PreventionGenetics in United States. POMGNT1 Specificity 100 % Genes 8 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L , (...) View the complete list with 87 more genes Panel GTR000558794 complete gene list MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L, ABCA7, MYT1L, MED13L, BCL11A, CACNA2D3, POGZ, CUL3, ASXL3, CC2D1A, C12orf57, ZNF407, SETD5, ZMYND11, GRIP1, TBC1D20, PACS1, AUTS2, KATNAL2, KMT2A, MAGEL2, ANK2, NFIX, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, CACNA1C, EHMT1, FOXP1, ADNP, PTCHD1, SHANK2, SHANK3, VPS13B, RAB39B, CNTNAP2, TCF4, ANKRD11, DYRK1A, NRXN1, NEXMIF, RELN, PQBP1, DEAF1, BCKDK, MBD5, CHD2, KCNQ3, HCN1, GRIN2B, FOLR1, SLC6A1, SCN2A, GABRB3, SPAST, SCN1A, POMGNT1, SMAD4, NSD1, TSC1, RAD21, TSC2, RAI1, PCDH19, KRAS, FOXG1, DHCR7, CHD7, CDKL5, BRAF, ARX, SGSH, SLC9A6, MAOA, STXBP1, GATM, GAMT, MECP2, NDP, MFRP, ADSL, PTEN, UBE3A, FMR1 Specificity 1 % Genes 8 %
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A. By Centogene AG - the Rare Disease Company in Germany. POMGNT1 Specificity 100 % Genes 8 %
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C. By Centogene AG - the Rare Disease Company in Germany. POMGNT1 Specificity 100 % Genes 8 %
Limb girdle muscular dystrophy 2O. By MVZ Dortmund Dr. Eberhard & Partner in Germany. POMGNT1 Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy A3. By Praxis fuer Humangenetik Wien in Austria. POMGNT1 Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy B3. By Praxis fuer Humangenetik Wien in Austria. POMGNT1 Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy C3. By Praxis fuer Humangenetik Wien in Austria. POMGNT1 Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy A3. By MedGene in Slovakia. POMGNT1 Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy B3. By MedGene in Slovakia. POMGNT1 Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy C3. By MedGene in Slovakia. POMGNT1 Specificity 100 % Genes 8 %
Muscle-Eye-Brain (MEB) Disease: POMGNT1 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. POMGNT1 Specificity 100 % Genes 8 %
Muscle-Eye-Brain (MEB) Disease: POMGNT1 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. POMGNT1 Specificity 100 % Genes 8 %
POMGNT1. By Fulgent Genetics Fulgent Genetics in United States. POMGNT1 Specificity 100 % Genes 8 %
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3. By Bioarray in Spain. POMGNT1 Specificity 100 % Genes 8 %
MUSCLE-EYE-BRAIN DISEASE. By Laboratorio de Genetica Clinica SL in Spain. POMGNT1 Specificity 100 % Genes 8 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2O. By Laboratorio de Genetica Clinica SL in Spain. POMGNT1 Specificity 100 % Genes 8 %
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A3 , Sequencing POMGNT1 Gene. By Reference Laboratory Genetics in Spain. POMGNT1 Specificity 100 % Genes 8 %
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. KIAA1549, ADGRA3, TRNT1, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, AGBL5, DHX38, IFT140, MVK, POMGNT1, RBP3, NR2E3, MAK, BBS2, BBS1 , (...) View the complete list with 35 more genes Panel GTR000560216 complete gene list KIAA1549, ADGRA3, TRNT1, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, AGBL5, DHX38, IFT140, MVK, POMGNT1, RBP3, NR2E3, MAK, BBS2, BBS1, CYP4V2, HGSNAT, EYS, CERKL, PRCD, LRAT, PCARE, IMPG2, NRL, CNGA1, FAM161A, RGR, PDE6A, DHDDS, MERTK, C8orf37, IDH3B, CRB1, PDE6B, PROM1, RHO, RLBP1, RPE65, SAG, TULP1, USH2A, TTC8, CLRN1, ARL6, ABCA4, RP1, SPATA7, NEUROD1, BEST1, ZNF513 Specificity 2 % Genes 8 %
FKRP DNA Sequencing Test. By Athena Diagnostics Inc in United States. FKRP Specificity 100 % Genes 8 %
Test for FKRP-Related Muscle Diseases. By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. FKRP Specificity 100 % Genes 8 %
FKRP. By Institute for Human Genetics University Clinic Freiburg in Germany. FKRP Specificity 100 % Genes 8 %
FKRP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. FKRP Specificity 100 % Genes 8 %
FKRP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. FKRP Specificity 100 % Genes 8 %
FKRP. Detection of the mutation p.Leu276Ile by sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. FKRP Specificity 100 % Genes 8 %
Limb-girdle muscular dystrophy type 2I (LGMD2I, sequence analysis of FKRP gene). By CGC Genetics in Portugal. FKRP Specificity 100 % Genes 8 %
Muscular dystrophy type 1C, congenital (sequence analysis of FKRP gene). By CGC Genetics in Portugal. FKRP Specificity 100 % Genes 8 %
Limb-girdle muscular dystrophy (deletions/duplications of SGCA, SGCB, SGCD, SGCG and FKRP genes). By CGC Genetics in Portugal. SGCD, FKRP, SGCG, SGCB, SGCA Specificity 20 % Genes 8 %
Limb Girdle Muscular Dystrophy Type 2I via FKRP Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. FKRP Specificity 100 % Genes 8 %
Limb-girdle muscular dystrophy type 2I. By Neuromuscular Research Unit, Neurogenetics University of Tampere in Finland. FKRP Specificity 100 % Genes 8 %
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5. By Institute of Human Genetics Cologne University in Germany. FKRP Specificity 100 % Genes 8 %
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis. By MGZ Medical Genetics Center in Germany. HADH, PGK1, FDX2, AMPD1, RYR1, ANO5, DYSF, FKRP, DMD, SLC22A5, ETFDH, ETFA, ETFB, PYGM, PFKM, ISCU, LPIN1, ABHD5, HADHB, PNPLA2 , (...) View the complete list with 8 more genes Panel GTR000521025 complete gene list HADH, PGK1, FDX2, AMPD1, RYR1, ANO5, DYSF, FKRP, DMD, SLC22A5, ETFDH, ETFA, ETFB, PYGM, PFKM, ISCU, LPIN1, ABHD5, HADHB, PNPLA2, HADHA, CPT2, AMACR, GAA, ACADVL, AGL, ACADS, ACADM Specificity 4 % Genes 8 %
Muscle Pain - fluctuating CK - Rhabdomyolysis. By MGZ Medical Genetics Center in Germany. AMPD1, LAMP2, RYR1, CACNA1S, ANO5, TTN, SCN4A, DYSF, FKRP, CLCN1, DNM2, DMD, SEPT9, ETFDH, ETFA, ETFB, PYGM, LPIN1, HADHB, HADHA , (...) View the complete list with 6 more genes Panel GTR000514783 complete gene list AMPD1, LAMP2, RYR1, CACNA1S, ANO5, TTN, SCN4A, DYSF, FKRP, CLCN1, DNM2, DMD, SEPT9, ETFDH, ETFA, ETFB, PYGM, LPIN1, HADHB, HADHA, CPT2, GAA, ACADVL, ACADS, ACADM, TTR Specificity 4 % Genes 8 %
FKRP-Related Muscle Diseases. By MGZ Medical Genetics Center in Germany. FKRP Specificity 100 % Genes 8 %
Limb Girdle Muscular Dystrophy Autosomal Recessive Panel. By FirmaLab in United States. TCAP, ANO5, TTN, SGCE, DYSF, FKRP, CAPN3, SGCG, SGCB, SGCA, TRIM32 Specificity 10 % Genes 8 %
Muscular dystrophy type 1C. By Centogene AG - the Rare Disease Company in Germany. FKRP Specificity 100 % Genes 8 %
Limb-girdle muscular dystrophy, autosomal recessive type 2I. By Centogene AG - the Rare Disease Company in Germany. FKRP Specificity 100 % Genes 8 %
Walker-Warburg syndrome. By Centogene AG - the Rare Disease Company in Germany. FKRP Specificity 100 % Genes 8 %
Limb girdle muscular dystrophy 2I. By MVZ Dortmund Dr. Eberhard & Partner in Germany. FKRP Specificity 100 % Genes 8 %
FKRP. By MVZ Dortmund Dr. Eberhard & Partner in Germany. FKRP Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy A5. By Praxis fuer Humangenetik Wien in Austria. FKRP Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy B3. By Praxis fuer Humangenetik Wien in Austria. FKRP Specificity 100 % Genes 8 %
Muscular dystrophy, limb-girdle 2I. By Praxis fuer Humangenetik Wien in Austria. FKRP Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy A5. By MedGene in Slovakia. FKRP Specificity 100 % Genes 8 %
Muscular dystrophy / dystroglycanopathy B3. By MedGene in Slovakia. FKRP Specificity 100 % Genes 8 %
Muscular dystrophy, limb-girdle 2I. By MedGene in Slovakia. FKRP Specificity 100 % Genes 8 %
Limb-girdle muscular dystrophy type 2I (LGMD2I): FKRP gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. FKRP Specificity 100 % Genes 8 %
Muscular dystrophy type 1C, Congenital: FKRP gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. FKRP Specificity 100 % Genes 8 %
Merosin-Deficient CMD Type 1C (MDC1C): FKRP Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FKRP Specificity 100 % Genes 8 %
Merosin-Deficient CMD Type 1C (MDC1C): FKRP Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FKRP Specificity 100 % Genes 8 %
Limb-Girdle Muscular Dystrophy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ISPD, SGCD, TCAP, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, PNPLA2, TRIM32 Specificity 12 % Genes 15 %
FKRP. By Fulgent Genetics Fulgent Genetics in United States. FKRP Specificity 100 % Genes 8 %
Congenital muscular dystrophy type 1C. By Bioarray in Spain. FKRP Specificity 100 % Genes 8 %
Autosomal recessive limb-girdle muscular dystrophy type 2I. By Bioarray in Spain. FKRP Specificity 100 % Genes 8 %
Walker-Warburg syndrome. By Bioarray in Spain. FKRP Specificity 100 % Genes 8 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I (AUTOSOMAL RECESSIVE) (FKRP DEFICIENCY). By Laboratorio de Genetica Clinica SL in Spain. FKRP Specificity 100 % Genes 8 %
Congenital Muscular Dystrophy Type 1C, Sequencing FKRP Gene. By Reference Laboratory Genetics in Spain. FKRP Specificity 100 % Genes 8 %
LARGE1. By Institute for Human Genetics University Clinic Freiburg in Germany. LARGE1 Specificity 100 % Genes 8 %
LARGE. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. LARGE1 Specificity 100 % Genes 8 %
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 (sequence analysis of LARGE gene). By CGC Genetics in Portugal. LARGE1 Specificity 100 % Genes 8 %
Congenital muscular dystrophy with intellectual disability, type B, 6 (sequence analysis of LARGE gene). By CGC Genetics in Portugal. LARGE1 Specificity 100 % Genes 8 %
Congenital muscular dystrophy with intellectual disability, type B, 6 (sequence analysis of LARGE gene). By CGC Genetics in Portugal. LARGE1 Specificity 100 % Genes 8 %
Large Sequencing. By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics in United States. LARGE1 Specificity 100 % Genes 8 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...) View the complete list with 285 more genes Panel GTR000552334 complete gene list ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN, PEX11B, CEP78, KIAA1549, RCBTB1, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, COL18A1, TUBGCP6, TUBGCP4, PLK4, LRP2, CEP83, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, IFT172, TCTN3, SLC25A46, VSX2, B9D2, ARL13B, IFT80, CPLANE1, CEP41, IFT43, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CFH, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, GNPTG, ABCC6, PEX6, PRPS1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, HCN1, LARGE1, ISPD, PNPLA6, AHI1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, ALMS1, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, ABCD1, TIMM8A, NYX, FRMD7, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, MVK, WDR35, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, CTNNB1, TMEM231, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, AMACR, INPP5E, RP1, PDZD7, CHM, PRKCG, COL2A1, LRP5, FBLN5, MMACHC, SPATA7, NEUROD1, INVS, C12orf65, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 15 %
Dystroglycanopathy via LARGE1/LARGE Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. LARGE1 Specificity 100 % Genes 8 %
Merosin-Deficient CMD Type 1D (MDC1D): LARGE Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. LARGE1 Specificity 100 % Genes 8 %
Merosin-Deficient CMD Type 1D (MDC1D): LARGE Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. LARGE1 Specificity 100 % Genes 8 %
LARGE. By Fulgent Genetics Fulgent Genetics in United States. LARGE1 Specificity 100 % Genes 8 %
Congenital muscular dystrophy type 6B. By Bioarray in Spain. LARGE1 Specificity 100 % Genes 8 %
Walker-Warburg syndrome. By Bioarray in Spain. LARGE1 Specificity 100 % Genes 8 %
Rapid microarray (CGH and SNP). By Allele Diagnostics Allele Diagnostics in United States. CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...) View the complete list with 153 more genes Panel GTR000525320 complete gene list CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK, EXT2, VLDLR, MYCN, ZIC3, F8, F9, EFNB1, TBX5, SALL4, ALX4, LHX4, KCNQ1OT1, NR5A1, SH2D1A, NKX2-5, DOCK8, ACVRL1, MITF, GLI3, ZIC2, TGIF1, SOX9, TWIST1, MSX2, IL1RAPL1, NSDHL, SOX3, FTSJ1, PHF8, EHMT1, FOXP1, FOXP2, MID1, OTOA, GATA3, FGF3, SOX10, EDNRB, PAX3, COL4A6, SALL1, SHANK2, TBX1, VPS13B, ZEB2, CASK, OPHN1, GRIA3, FGD1, CNTNAP2, TCF4, NRXN1, MAGI2, PDCD10, CCM2, KRIT1, ADGRG1, PAFAH1B1, SIX3, DCX, MBD5, KCNQ2, SCN2A, LARGE1, EMD, MTM1, PKD1, COL4A5, GHR, ANOS1, SHOX, NR0B1, SGCE, NF1, GCH1, SCN1A, PMP22, BTK, ABCC8, CYBB, CTNS, ENG, SMAD4, BMPR1A, GPC3, SDHD, STK11, NF2, PTCH1, NSD1, NIPBL, TSC1, SYNGAP1, TSC2, SRY, SLC2A1, RUNX2, RPS19, RAI1, PORCN, PLP1, PCDH19, MEF2C, GJB6, FOXG1, DMD, CREBBP, CHD7, CDKL5, ARSA, AR, LMX1B, SOX2, APTX, SLC3A1, BCOR, AMER1, TIMM8A, GK, HCCS, OTC, TUSC3, STXBP1, SDHB, FBN1, MECP2, SHH, ADGRV1, NPHP1, HPRT1, NDP, JAG1, PITX2, OCRL, ELN, RET, HNF1B, RB1, CHM, PAX6, WT1, OCA2, EYA1, HBB, FOXL2, ATP7A, USH1C, TP53, PTEN, APC, VHL, UBE3A, FMR1 Specificity 1 % Genes 8 %
High-Resolution Rapid Microarray (CGH and SNP). By Allele Diagnostics Allele Diagnostics in United States. CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...) View the complete list with 153 more genes Panel GTR000560671 complete gene list CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK, EXT2, VLDLR, MYCN, ZIC3, F8, F9, EFNB1, TBX5, SALL4, ALX4, LHX4, KCNQ1OT1, NR5A1, SH2D1A, NKX2-5, DOCK8, ACVRL1, MITF, GLI3, ZIC2, TGIF1, SOX9, TWIST1, MSX2, IL1RAPL1, NSDHL, SOX3, FTSJ1, PHF8, EHMT1, FOXP1, FOXP2, MID1, OTOA, GATA3, FGF3, SOX10, EDNRB, PAX3, COL4A6, SALL1, SHANK2, TBX1, VPS13B, ZEB2, CASK, OPHN1, GRIA3, FGD1, NRXN1, MAGI2, PDCD10, CCM2, KRIT1, ADGRG1, PAFAH1B1, SIX3, DCX, MBD5, KCNQ2, SCN2A, LARGE1, EMD, MTM1, PKD1, COL4A5, GHR, ANOS1, SHOX, NR0B1, SGCE, NF1, GCH1, SCN1A, PMP22, BTK, ABCC8, CYBB, CTNS, ENG, SMAD4, BMPR1A, GPC3, SDHD, STK11, NF2, PTCH1, NSD1, NIPBL, TSC1, SYNGAP1, TSC2, SRY, SLC2A1, RUNX2, RPS19, RAI1, PORCN, PLP1, PCDH19, MEF2C, GJB6, FOXG1, DMD, CREBBP, CHD7, CDKL5, ARSA, AR, LMX1B, SOX2, APTX, SLC3A1, BCOR, AMER1, TIMM8A, GK, HCCS, OTC, TUSC3, STXBP1, SDHB, FBN1, MECP2, SHH, ADGRV1, NPHP1, CNTNAP2, TCF4, HPRT1, NDP, JAG1, PITX2, OCRL, ELN, RET, HNF1B, RB1, CHM, PAX6, WT1, OCA2, EYA1, HBB, FOXL2, ATP7A, USH1C, TP53, PTEN, APC, VHL, UBE3A, FMR1 Specificity 1 % Genes 8 %
Walker-Warburg syndrome (sequence analysis of ISPD gene). By CGC Genetics in Portugal. ISPD Specificity 100 % Genes 8 %
ISPD Sequencing. By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics in United States. ISPD Specificity 100 % Genes 8 %
Walker-Warburg Syndrome via Isoprenoid Synthase Domain Containing (ISPD) Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ISPD Specificity 100 % Genes 8 %
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CAPN5, ATOH7, VCAN, RCBTB1, KIF11, ZNF408, CTNNB1, ISPD, FZD4, TSPAN12, NDP, ATP6V0A2, COL2A1, LRP5 Specificity 8 % Genes 8 %
Walker-Warburg syndrome. By Centogene AG - the Rare Disease Company in Germany. ISPD Specificity 100 % Genes 8 %
Single gene testing ISPD. By CeGaT GmbH in Germany. ISPD Specificity 100 % Genes 8 %
ISPD. By Fulgent Genetics Fulgent Genetics in United States. ISPD Specificity 100 % Genes 8 %
DAG1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. DAG1 Specificity 100 % Genes 8 %
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (sequence analysis of DAG1 gene). By CGC Genetics in Portugal. DAG1 Specificity 100 % Genes 8 %
Dystroglycanopathy via DAG1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DAG1 Specificity 100 % Genes 8 %
DAG1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. DAG1 Specificity 100 % Genes 8 %
DAG1. By Fulgent Genetics Fulgent Genetics in United States. DAG1 Specificity 100 % Genes 8 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P. By Laboratorio de Genetica Clinica SL in Spain. DAG1 Specificity 100 % Genes 8 %
Limb-Girdle Muscular Dystrophy Type 2P, Sequencing DAG1 Gene. By Reference Laboratory Genetics in Spain. DAG1 Specificity 100 % Genes 8 %
Walker-Warburg Syndrome via Glycosyltransferase-Like Domain-Containing Protein 2 (POMGNT2) Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. POMGNT2 Specificity 100 % Genes 8 %
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8. By Centogene AG - the Rare Disease Company in Germany. POMGNT2 Specificity 100 % Genes 8 %
POMGNT2. By Fulgent Genetics Fulgent Genetics in United States. POMGNT2 Specificity 100 % Genes 8 %
Walker-Warburg Syndrome via B3GNT1(B4GAT1) Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. B4GAT1 Specificity 100 % Genes 8 %
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13. By Centogene AG - the Rare Disease Company in Germany. B4GAT1 Specificity 100 % Genes 8 %
B3GNT1. By Fulgent Genetics Fulgent Genetics in United States. B4GAT1 Specificity 100 % Genes 8 %
B4GAT1. By Fulgent Genetics Fulgent Genetics in United States. B4GAT1 Specificity 100 % Genes 8 %
Walker-Warburg Syndrome via TMEM5 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RXYLT1 Specificity 100 % Genes 8 %
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10. By Centogene AG - the Rare Disease Company in Germany. RXYLT1 Specificity 100 % Genes 8 %
TMEM5. By Fulgent Genetics Fulgent Genetics in United States. RXYLT1 Specificity 100 % Genes 8 %

Alternate names

Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Mddga1 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt1-related, hydrocephalus, agyria, and retinal dysplasia, hard syndrome, cerebroocular dysplasia-muscular dystrophy syndrome, cod-md syndrome;hard syndrome; hydrocephalus-agyria-retinal dysplasia syndrome; wws.

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