Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 4; Mddga4

Description

MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007; Muntoni and Voit, 2004; Muntoni et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 4; Mddga4

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Strabismus
  • Motor delay
  • Muscular hypotonia
  • Cataract
  • Muscle weakness
And another 87 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 4; Mddga4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FKRP DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

FKRP
Specificity
100 %
Genes
50 %
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
9 %
Genes
100 %
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
7 %
Genes
100 %
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
9 %
Genes
100 %
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
5 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
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
100 %
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
2 %
Genes
100 %
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
100 %
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
100 %
Test for FKRP-Related Muscle Diseases.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

FKRP
Specificity
100 %
Genes
50 %
CMD panel.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

POMT1, POMT2, FKRP, POMGNT1, FKTN
Specificity
40 %
Genes
100 %
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
2 %
Genes
100 %
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
3 %
Genes
100 %
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
10 %
Genes
100 %
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
6 %
Genes
100 %
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
2 %
Genes
100 %
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
8 %
Genes
100 %
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
4 %
Genes
100 %
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
6 %
Genes
100 %
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
6 %
Genes
100 %
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
12 %
Genes
100 %
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
8 %
Genes
100 %
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
8 %
Genes
100 %
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
7 %
Genes
100 %
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
4 %
Genes
100 %
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
7 %
Genes
100 %
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
15 %
Genes
100 %
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
1 %
Genes
100 %
FKRP.

By Institute for Human Genetics University Clinic Freiburg in Germany.

FKRP
Specificity
100 %
Genes
50 %
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
100 %
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
5 %
Genes
100 %
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
9 %
Genes
100 %
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
9 %
Genes
100 %
FKRP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FKRP
Specificity
100 %
Genes
50 %
FKRP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FKRP
Specificity
100 %
Genes
50 %
FKRP. Detection of the mutation p.Leu276Ile by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FKRP
Specificity
100 %
Genes
50 %
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
8 %
Genes
100 %
Limb-girdle muscular dystrophy type 2I (LGMD2I, sequence analysis of FKRP gene).

By CGC Genetics in Portugal.

FKRP
Specificity
100 %
Genes
50 %
Muscular dystrophy type 1C, congenital (sequence analysis of FKRP gene).

By CGC Genetics in Portugal.

FKRP
Specificity
100 %
Genes
50 %
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
50 %
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
7 %
Genes
100 %
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
12 %
Genes
100 %
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
7 %
Genes
100 %
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
8 %
Genes
100 %
Limb Girdle Muscular Dystrophy Type 2I via FKRP Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FKRP
Specificity
100 %
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
100 %
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
100 %
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
2 %
Genes
100 %
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
100 %
Limb-girdle muscular dystrophy type 2I.

By Neuromuscular Research Unit, Neurogenetics University of Tampere in Finland.

FKRP
Specificity
100 %
Genes
50 %
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
6 %
Genes
100 %
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
6 %
Genes
100 %
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
6 %
Genes
100 %
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
5 %
Genes
100 %
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
5 %
Genes
100 %
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
5 %
Genes
100 %
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
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
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
16 %
Genes
100 %
Alpha-Dystroglycanopathy.

By MGZ Medical Genetics Center in Germany.

GMPPB, POMK, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, ISPD, POMT1, POMT2, FKRP, POMGNT1, FKTN
Specificity
16 %
Genes
100 %
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
50 %
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
50 %
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
13 %
Genes
100 %
Dystroglycanopathies.

By MGZ Medical Genetics Center in Germany.

LARGE1, POMT1, POMT2, FKRP, POMGNT1, FKTN
Specificity
34 %
Genes
100 %
FKRP-Related Muscle Diseases.

By MGZ Medical Genetics Center in Germany.

FKRP
Specificity
100 %
Genes
50 %
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
2 %
Genes
100 %
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
8 %
Genes
100 %
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
3 %
Genes
100 %
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
2 %
Genes
100 %
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
3 %
Genes
100 %
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
50 %
Muscular dystrophy type 1C.

By Centogene AG - the Rare Disease Company in Germany.

FKRP
Specificity
100 %
Genes
50 %
Limb-girdle muscular dystrophy, autosomal recessive type 2I.

By Centogene AG - the Rare Disease Company in Germany.

FKRP
Specificity
100 %
Genes
50 %
Walker-Warburg syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FKRP
Specificity
100 %
Genes
50 %
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
10 %
Genes
100 %
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
100 %
Walker-Warburg syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

ISPD, POMT1, POMT2, FKRP, FKTN
Specificity
40 %
Genes
100 %
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
4 %
Genes
100 %
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
4 %
Genes
100 %
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
14 %
Genes
100 %
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
7 %
Genes
100 %
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
2 %
Genes
100 %
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
6 %
Genes
100 %
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
16 %
Genes
100 %
Limb girdle muscular dystrophy 2I.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FKRP
Specificity
100 %
Genes
50 %
FKRP.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FKRP
Specificity
100 %
Genes
50 %
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
2 %
Genes
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
4 %
Genes
100 %
Muscular dystrophy / dystroglycanopathy A5.

By Praxis fuer Humangenetik Wien in Austria.

FKRP
Specificity
100 %
Genes
50 %
Muscular dystrophy / dystroglycanopathy B3.

By Praxis fuer Humangenetik Wien in Austria.

FKRP
Specificity
100 %
Genes
50 %
Muscular dystrophy, limb-girdle 2I.

By Praxis fuer Humangenetik Wien in Austria.

FKRP
Specificity
100 %
Genes
50 %
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
1 %
Genes
100 %
Muscular dystrophy / dystroglycanopathy A5.

By MedGene in Slovakia.

FKRP
Specificity
100 %
Genes
50 %
Muscular dystrophy / dystroglycanopathy B3.

By MedGene in Slovakia.

FKRP
Specificity
100 %
Genes
50 %
Muscular dystrophy, limb-girdle 2I.

By MedGene in Slovakia.

FKRP
Specificity
100 %
Genes
50 %
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
100 %
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
100 %
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
100 %
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
2 %
Genes
100 %
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
12 %
Genes
100 %
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
5 %
Genes
100 %
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
8 %
Genes
100 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

STIM1, VCL, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, PLN , (...)

View the complete list with 93 more genes
Specificity
2 %
Genes
100 %
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
7 %
Genes
100 %
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
50 %
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
50 %
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
17 %
Genes
100 %
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
10 %
Genes
100 %
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
12 %
Genes
100 %
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
7 %
Genes
100 %
Walker-Warburg Syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LARGE1, ISPD, POMT1, POMT2, FKRP, POMGNT1, FKTN
Specificity
29 %
Genes
100 %
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
19 %
Genes
100 %
Merosin-Deficient CMD Type 1C (MDC1C): FKRP Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FKRP
Specificity
100 %
Genes
50 %
Merosin-Deficient CMD Type 1C (MDC1C): FKRP Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FKRP
Specificity
100 %
Genes
50 %
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
9 %
Genes
100 %
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
5 %
Genes
100 %
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
4 %
Genes
100 %
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
4 %
Genes
100 %
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
3 %
Genes
100 %
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
6 %
Genes
100 %
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
2 %
Genes
100 %
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
4 %
Genes
100 %
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
9 %
Genes
100 %
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
4 %
Genes
100 %
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
3 %
Genes
100 %
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
7 %
Genes
100 %
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
1 %
Genes
100 %
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
15 %
Genes
100 %
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
1 %
Genes
100 %
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
4 %
Genes
100 %
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
16 %
Genes
100 %
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
6 %
Genes
50 %
FKRP.

By Fulgent Genetics Fulgent Genetics in United States.

FKRP
Specificity
100 %
Genes
50 %
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
1 %
Genes
100 %
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
2 %
Genes
100 %
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
5 %
Genes
100 %
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
3 %
Genes
100 %
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
2 %
Genes
100 %
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
100 %
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
100 %
Congenital muscular dystrophy type 1C.

By Bioarray in Spain.

FKRP
Specificity
100 %
Genes
50 %
Autosomal recessive limb-girdle muscular dystrophy type 2I.

By Bioarray in Spain.

FKRP
Specificity
100 %
Genes
50 %
Walker-Warburg syndrome.

By Bioarray in Spain.

FKRP
Specificity
100 %
Genes
50 %
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
100 %
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
8 %
Genes
100 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I (AUTOSOMAL RECESSIVE) (FKRP DEFICIENCY).

By Laboratorio de Genetica Clinica SL in Spain.

FKRP
Specificity
100 %
Genes
50 %
WALKER - WALBURG SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

POMT1, POMT2, FKRP, FKTN
Specificity
50 %
Genes
100 %
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
10 %
Genes
100 %
Congenital Muscular Dystrophy Type 1C, Sequencing FKRP Gene.

By Reference Laboratory Genetics in Spain.

FKRP
Specificity
100 %
Genes
50 %
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
16 %
Genes
100 %
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
12 %
Genes
100 %
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
10 %
Genes
100 %
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
17 %
Genes
100 %
Dystroglycanopathies , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

LARGE1, B4GAT1, ISPD, POMT1, POMT2, DAG1, FKRP, POMGNT1, FKTN
Specificity
23 %
Genes
100 %
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
2 %
Genes
100 %
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
6 %
Genes
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
1 %
Genes
50 %
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
1 %
Genes
50 %
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
50 %
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
50 %
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
50 %
Test for FKTN-Related Muscle Diseases.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

FKTN
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
FKTN.

By Institute for Human Genetics University Clinic Freiburg in Germany.

FKTN
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
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
50 %
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
50 %
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
50 %
FKTN. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FKTN
Specificity
100 %
Genes
50 %
FKTN. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FKTN
Specificity
100 %
Genes
50 %
Fukuyama congenital muscular dystrophy (sequence analysis of FKTN gene).

By CGC Genetics in Portugal.

FKTN
Specificity
100 %
Genes
50 %
Hyperekplexia (NGS panel for 7 genes).

By CGC Genetics in Portugal.

GPHN, SLC6A5, GLRA1, GLRB, ASNS, ARHGEF9, FKTN
Specificity
15 %
Genes
50 %
FKTN-Related Muscle Diseases.

By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics in United States.

FKTN
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
Dystroglycanopathy via FKTN Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FKTN
Specificity
100 %
Genes
50 %
Fukuyama Congenital Muscular Dystrophy via the FKTN Japanese Founder Mutation.

By PreventionGenetics PreventionGenetics in United States.

FKTN
Specificity
100 %
Genes
50 %
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
50 %
Fukuyama congenital muscular dystrophy.

By Centogene AG - the Rare Disease Company in Germany.

FKTN
Specificity
100 %
Genes
50 %
Limb-girdle muscular dystrophy, autosomal recessive type 2M.

By Centogene AG - the Rare Disease Company in Germany.

FKTN
Specificity
100 %
Genes
50 %
Walker-Warburg syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FKTN
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
Cardiomyopathy, dilated type 1X.

By Centogene AG - the Rare Disease Company in Germany.

FKTN
Specificity
100 %
Genes
50 %
Limb girdle muscular dystrophy 2M.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FKTN
Specificity
100 %
Genes
50 %
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
6 %
Genes
50 %
FKTN.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FKTN
Specificity
100 %
Genes
50 %
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
50 %
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
4 %
Genes
50 %
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
1 %
Genes
50 %
Fukuyama Congenital Muscular Dystrophy: FKTN Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FKTN
Specificity
100 %
Genes
50 %
Fukuyama Congenital Muscular Dystrophy: FKTN Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FKTN
Specificity
100 %
Genes
50 %
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
50 %
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
1 %
Genes
50 %
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
50 %
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
50 %
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
50 %
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
50 %
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
50 %
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
50 %
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
50 %
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
50 %
Walker-Warburg Syndrome.

By Integrated Genetics Westborough Integrated Genetics in United States.

FKTN
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
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
50 %
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
50 %
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
50 %
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
50 %
Syndromic Congenital Muscular Dystrophy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

LARGE1, POMT1, POMT2, POMGNT1, FKTN
Specificity
20 %
Genes
50 %
FKTN.

By Fulgent Genetics Fulgent Genetics in United States.

FKTN
Specificity
100 %
Genes
50 %
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
6 %
Genes
50 %
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
50 %
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
2 %
Genes
50 %
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
50 %
Cardiomyopathy, dilated type 1X.

By Bioarray in Spain.

FKTN
Specificity
100 %
Genes
50 %
Congenital muscular dystrophy, Fukuyama type.

By Bioarray in Spain.

FKTN
Specificity
100 %
Genes
50 %
Walker-Warburg syndrome.

By Bioarray in Spain.

FKTN
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
MUSCULAR DYSTROPHY, FUKUYAMA CONGENITAL.

By Laboratorio de Genetica Clinica SL in Spain.

FKTN
Specificity
100 %
Genes
50 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M.

By Laboratorio de Genetica Clinica SL in Spain.

FKTN
Specificity
100 %
Genes
50 %
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
50 %
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
2 %
Genes
50 %
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
50 %
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
1 %
Genes
50 %

Alternate names

Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 4; Mddga4 Is also known as fukuyama congenital muscular dystrophy;fcmd, walker-warburg syndrome or muscle-eye-brain disease, fktn-related;fcmd; fukuyama congenital muscular dystrophy.



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