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 ).

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.


Mendelian

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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEU-LAXOVA SYNDROME 2; NLS2 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

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