Myopathy, Distal, With Anterior Tibial Onset; Dmat

Clinical Features

Phenotypes and symptoms related to Myopathy, Distal, With Anterior Tibial Onset; Dmat

  • Myopathy
  • Elevated serum creatine phosphokinase
  • Distal muscle weakness
  • Distal amyotrophy

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Myopathy, Distal, With Anterior Tibial Onset; Dmat Recommended genes panels

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

By Athena Diagnostics Inc in United States.

DYSF
Specificity
100 %
Genes
100 %
Distal Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

GNE, CRYAB, VCP, NEB, DNM2, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3
Specificity
6 %
Genes
100 %
Limb Girdle Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc in United States.

TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc in United States.

TRIM32, CAVIN1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, CCDC78, SYNE1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Limb-Girdle Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Limb-Girdle Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
DYSF. Detection of the mutations 1624delG and 927delG by sequencing.

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

DYSF
Specificity
100 %
Genes
100 %
DYSF. Complete sequencing.

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

DYSF
Specificity
100 %
Genes
100 %
DYSF. Complete sequencing.

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

DYSF
Specificity
100 %
Genes
100 %
Limb-Girdle Muscular Dystrophies AR type 2B (2 mutations on DYSF gene).

By CGC Genetics in Portugal.

DYSF
Specificity
100 %
Genes
100 %
Miyoshi muscular dystrophy 1 (sequence analysis of DYSF gene).

By CGC Genetics in Portugal.

DYSF
Specificity
100 %
Genes
100 %
Limb-girdle muscular dystrophies (NGS panel for 26 genes).

By CGC Genetics in Portugal.

TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Congenital muscular dystrophies (NGS panel for 31 genes).

By CGC Genetics in Portugal.

CAVIN1, DMD, FKTN, POMGNT1, DNM2, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Miyoshi muscular dystrophy 1 (deletions/duplications analysis of DYSF gene).

By CGC Genetics in Portugal.

DYSF
Specificity
100 %
Genes
100 %
Limb-girdle muscular dystrophy type 2B (LGMD2B, deletion/duplication analysis of DYSF gene).

By CGC Genetics in Portugal.

DYSF
Specificity
100 %
Genes
100 %
Miyoshi muscular dystrophy 1 (deletions/duplications analysis of DYSF gene).

By CGC Genetics in Portugal.

DYSF
Specificity
100 %
Genes
100 %
Limb-girdle muscular dystrophy type 2B (LGMD2B, deletion/duplication analysis of DYSF gene).

By CGC Genetics in Portugal.

DYSF
Specificity
100 %
Genes
100 %
Dysferlin (DYSF) Sequencing.

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

DYSF
Specificity
100 %
Genes
100 %
Distal Hereditary Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

GNE, CRYAB, VCP, SQSTM1, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
100 %
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

GAA, TRIM32, VCP, PNPLA2, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy via DYSF Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DYSF
Specificity
100 %
Genes
100 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

ACAD9, ACADM, ACADS, AGL, ACADVL, ALDOA, TWNK, GAA, AMACR, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, COQ9, PDSS2, PDSS1, PGM1, LDHA , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Distal Myopathy NGS panel.

By Connective Tissue Gene Tests in United States.

GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
100 %
Distal Myopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
100 %
Distal Myopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
100 %
Limb girdle muscular dystrophy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Limb girdle muscular dystrophy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Limb girdle muscular dystrophy NGS panel.

By Connective Tissue Gene Tests in United States.

GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

ACADM, ACADS, AGL, ACADVL, GAA, AMACR, CPT2, HADHA, PNPLA2, HADHB, ABHD5, LPIN1, ISCU, PFKM, PYGM, ETFB, ETFA, ETFDH, SLC22A5, DMD , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Muscle Pain - fluctuating CK - Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

TTR, ACADM, ACADS, ACADVL, GAA, CPT2, HADHA, HADHB, LPIN1, PYGM, ETFB, ETFA, ETFDH, SEPT9, DMD, DNM2, CLCN1, FKRP, DYSF, SCN4A , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Muscular Dystrophy: Limb Girdle - autosomal recessive.

By MGZ Medical Genetics Center in Germany.

TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, FKRP, DYSF, TTN, ANO5, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
7 %
Genes
100 %
Limb-Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy related to DYSF Gene.

By MGZ Medical Genetics Center in Germany.

DYSF
Specificity
100 %
Genes
100 %
Muscle Disease with Distal Myopathy.

By MGZ Medical Genetics Center in Germany.

AGL, GNE, CRYAB, VCP, PNPLA2, CHRNE, CAPN3, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Distal Myopathy Panel.

By FirmaLab in United States.

GNE, NEB, DNM2, CAV3, DYSF, TTN, MYH7, ANO5, MYOT, LDB3, MATR3
Specificity
10 %
Genes
100 %
Limb Girdle Muscular Dystrophy Autosomal Recessive Panel.

By FirmaLab in United States.

TRIM32, SGCA, SGCB, SGCG, CAPN3, FKRP, DYSF, SGCE, TTN, ANO5, TCAP
Specificity
10 %
Genes
100 %
Miyoshi myopathy.

By Centogene AG - the Rare Disease Company in Germany.

DYSF
Specificity
100 %
Genes
100 %
Myopathy, distal with anterior tibial onset.

By Centogene AG - the Rare Disease Company in Germany.

DYSF
Specificity
100 %
Genes
100 %
Limb-girdle muscular dystrophy, autosomal recessive type 2B.

By Centogene AG - the Rare Disease Company in Germany.

DYSF
Specificity
100 %
Genes
100 %
Limb-girdle muscular dystrophy panel.

By Centogene AG - the Rare Disease Company in Germany.

TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Congenital and Distal Myopathies Panel.

By CeGaT GmbH in Germany.

YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Muscular Dystrophies Panel.

By CeGaT GmbH in Germany.

CAVIN1, DPM1, DMD, FKTN, POMGNT1, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Limb-Girdle Muscular Dystrophies Panel.

By CeGaT GmbH in Germany.

GAA, GNE, TRIM32, DPM3, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Single gene testing DYSF.

By CeGaT GmbH in Germany.

DYSF
Specificity
100 %
Genes
100 %
Limb-Girdle Muscular Dystrophy type 2 (LGMD2).

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

FKTN, SGCA, POMGNT1, SGCG, CAPN3, FKRP, DYSF, ANO5, TRAPPC11, PLEC, POMT2, TCAP, SGCD
Specificity
8 %
Genes
100 %
Limb girdle muscular dystrophy 2B.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DYSF
Specificity
100 %
Genes
100 %
Limb girdle muscular dystrophy-Panel.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

TRIM32, DMD, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, CAV3, DYSF, DES, ANO5, MYOT, DNAJB6, POMT2, POMT1, TCAP, SGCD
Specificity
6 %
Genes
100 %
Dysferlin.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DYSF
Specificity
100 %
Genes
100 %
Congenital Myopathy and Distal Myopathy NGS panel.

By Asper Biogene Asper Biogene LLC in Estonia.

GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Limb-Girdle Muscular Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Limb girdle muscular dystrophy 2B, DYSF sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

DYSF
Specificity
100 %
Genes
100 %
Muscular dystrophy, limb-girdle 2B.

By Praxis fuer Humangenetik Wien in Austria.

DYSF
Specificity
100 %
Genes
100 %
Miyoshi muscular dystrophy 1.

By Praxis fuer Humangenetik Wien in Austria.

DYSF
Specificity
100 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Miyoshi muscular dystrophy 1.

By MedGene in Slovakia.

DYSF
Specificity
100 %
Genes
100 %
Muscular dystrophy, limb-girdle 2B.

By MedGene in Slovakia.

DYSF
Specificity
100 %
Genes
100 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Invitae Comprehensive Muscular Dystrophy Panel.

By Invitae in United States.

GAA, TRIM32, DPM3, PNPLA2, DPM1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Invitae Distal Myopathy Panel.

By Invitae in United States.

GNE, CRYAB, VCP, SQSTM1, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6
Specificity
6 %
Genes
100 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
100 %
Invitae Comprehensive Myopathy Panel.

By Invitae in United States.

CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Invitae Limb-Girdle Muscular Dystrophy Panel.

By Invitae in United States.

GAA, TRIM32, PNPLA2, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Limb-girdle muscular dystrophy type 2B (LGMD 2B): DYSF gene sequence analysis.

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

DYSF
Specificity
100 %
Genes
100 %
Limb-girdle muscular dystrophy type 2B (LGMD 2B): DYSF gene deletions-duplications analysis (MLPA).

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

DYSF
Specificity
100 %
Genes
100 %
LIMB-GIRDLE MUSCULAR DYSTROPHY.

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

TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
LIMB-GIRDLE MUSCULAR DYSTROPHY, A.R..

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

TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, FKRP, DYSF, TTN, DES, ANO5, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
6 %
Genes
100 %
Limb-Girdle Muscular Dystrophy Type 2B: DYSF Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DYSF
Specificity
100 %
Genes
100 %
Limb-Girdle Muscular Dystrophy Type 2B: DYSF Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DYSF
Specificity
100 %
Genes
100 %
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, PYGM, PMM2, DMD, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Muscular Dystrophies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TRIM32, CAVIN1, DPM3, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, SYNE1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Limb-Girdle Muscular Dystrophy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TRIM32, PNPLA2, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, TCAP, SGCD, ISPD
Specificity
6 %
Genes
100 %
Distal Hereditary Myopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GNE, CRYAB, VCP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, LDB3, MATR3, FHL1, TCAP
Specificity
8 %
Genes
100 %
DYSF.

By Fulgent Genetics Fulgent Genetics in United States.

DYSF
Specificity
100 %
Genes
100 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
100 %
LGMD and Congenital Muscular Dystrophy Panel.

By Blueprint Genetics in Finland.

TRIM32, CRYAB, PNPLA2, DMD, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, ANO5, MYOT, SELENON, MEGF10 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Comprehensive Muscular Dystrophy / Myopathy Panel.

By Blueprint Genetics in Finland.

GAA, TRIM32, POLG, CRYAB, PNPLA2, SEPT9, DMD, FKTN, NEB, SGCA, SGCB, SGCG, CAPN3, LMNA, PABPN1, FKRP, CAV3, DYSF, TTN, DES , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Metabolic Myopathy and Rhabdomyolysis Panel.

By Blueprint Genetics in Finland.

ACAD9, ACADL, ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, LDHA, ENO3, SUCLA2, COQ8A, GYS1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Dilated Cardiomyopathy (DCM) Panel.

By Blueprint Genetics in Finland.

TTR, GLB1, DSP, RAF1, PCCB, PCCA, TAZ, MLYCD, GBE1, ETFB, ETFA, ETFDH, ALMS1, DOLK, DMD, FKTN, LMNA, DYSF, TTN, DES , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Autosomal recessive limb-girdle muscular dystrophy type 2B.

By Bioarray in Spain.

DYSF
Specificity
100 %
Genes
100 %
Miyoshi myopathy.

By Bioarray in Spain.

DYSF
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

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.

TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
MIYOSHI MYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

DYSF, ANO5
Specificity
50 %
Genes
100 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B (AUTOSOMAL RECESSIVE) (DYSFERLIN DEFIC.).

By Laboratorio de Genetica Clinica SL in Spain.

DYSF
Specificity
100 %
Genes
100 %
Limb-girdle muscular dystrophy panel.

By LifeLabs Genetics in Canada.

TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Limb-Girdle Muscular Dystrophy Type 2B, Sequencing DYSF Gene.

By Reference Laboratory Genetics in Spain.

DYSF
Specificity
100 %
Genes
100 %
Autosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, FKRP, DYSF, TTN, ANO5, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
6 %
Genes
100 %
Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %

Alternate names

Myopathy, Distal, With Anterior Tibial Onset; Dmat Is also known as ;distal anterior compartment myopathy.



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