Muscular Dystrophy, Limb-girdle, Type 2r; Lgmd2r

Description

Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.

Clinical Features

Top most frequent phenotypes and symptoms related to Muscular Dystrophy, Limb-girdle, Type 2r; Lgmd2r

  • Muscle weakness
  • Myopathy
  • Cardiomyopathy
  • Facial palsy
  • Proximal muscle weakness
  • Muscular dystrophy
  • Limb muscle weakness
  • Dyskinesia
  • Elbow flexion contracture
  • Scapular winging
And another 5 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, Limb-girdle, Type 2r; Lgmd2r Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Myofibrillar Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

CRYAB, TTN, DES, FLNC, MYOT, LDB3, BAG3, FHL1, SELENON
Specificity
12 %
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 %
Comprehensive Cardiac Panel.

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

TTR, AGL, ACADVL, GAA, DSP, CRYAB, RAF1, MTO1, TMEM70, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
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 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

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

TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Dilated cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

TAZ, LMNA, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, LAMP2, ABCC9, ACTC1, TNNC1, TNNI3, MYH6, PLN, NEXN, TPM1, TNNT2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Dilated cardiomyopathy - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

TAZ, LMNA, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, LAMP2, ABCC9, ACTC1, TNNC1, TNNI3, MYH6, PLN, NEXN, TPM1, TNNT2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Pan-cardiomyopathy panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

TTR, DSP, CRYAB, TAZ, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, EMD, TCAP, SGCD, LAMP2, ABCC9, PKP2, RYR2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Cardiomyopathy Panel.

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

TTR, GAA, COL3A1, EYA4, DSP, CRYAB, RAF1, FBN1, SCO2, TAZ, COX15, SURF1, CBS, FXN, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Dilated Cardiomyopathy Panel.

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

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2 , (...)

View the complete list with 24 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 %
Restrictive Cardiomyopathy.

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

TTR, CRYAB, DES, MYH7, BAG3, MYBPC3, ACTC1, TNNI3, TNNT2
Specificity
12 %
Genes
100 %
Arrhymogenic Right Ventricular Cardiomyopathy Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

DSP, LMNA, TTN, DES, LDB3, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2
Specificity
8 %
Genes
100 %
DES Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

DES
Specificity
100 %
Genes
100 %
Atrioventricular Block Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

LMNA, DES, EMD, SCN1B, SCN5A, TRPM4, NKX2-5
Specificity
15 %
Genes
100 %
Left Ventricular Noncompaction (13 genes).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TAZ, LMNA, DES, MYH7, LDB3, MYBPC3, ACTC1, TPM1, TNNT2, ACTN2, MYL2, MYL3, VCL
Specificity
8 %
Genes
100 %
Dilated Cardiomyopathy Panel (30 genes).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CRYAB, TAZ, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL, ACTC1, ANKRD1, TNNC1, TNNI3 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Comprehensive Cardiomyopathy Panel (37 genes).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TTR, CRYAB, SCO2, TAZ, SURF1, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Restrictive Cardiomyopathy Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TTR, CRYAB, DES, MYH7, BAG3, MYBPC3, ACTC1, TNNI3, TNNT2
Specificity
12 %
Genes
100 %
DCM and DMD related Cardiomyopathy.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CRYAB, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL, ACTC1, ANKRD1, TNNC1 , (...)

View the complete list with 11 more genes
Specificity
4 %
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 %
DES.

By Institute for Human Genetics University Clinic Freiburg in Germany.

DES
Specificity
100 %
Genes
100 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Pan Cardiomyopathy Panel (62 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

TTR, GAA, EYA4, DSP, SLC25A4, SCO2, TAZ, COX15, FXN, DMD, GLA, FKTN, SGCA, SGCB, SGCG, LMNA, FKRP, CAV3, TTN, DES , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
Comprehensive Cardiomyopathy Panel.

By GeneDx in United States.

TTR, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2, FKTN, LMNA, MT-TL1, MT-TK, MT-ND1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
DCM/LVNC Sequencing Panel.

By GeneDx in United States.

TTR, TAZ, LMNA, MT-TK, MT-ND1, MT-ND6, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, SCN5A, MT-TS1, MT-TS2, LAMP2, ACTC1, ANKRD1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Myofibrillar myopathy, desmin related.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

DES
Specificity
100 %
Genes
100 %
CardioNext with TTN.

By Ambry Genetics in United States.

TTR, EYA4, JAG1, DSP, CRYAB, RAF1, TAZ, FXN, DMD, GLA, PTPN11, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
CMNext with TTN.

By Ambry Genetics in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, FXN, DMD, GLA, PTPN11, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TTR, COL3A1, EYA4, JAG1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, FXN, COL5A1, COL5A2, DMD, GLA, PLOD1, PTPN11, SMAD4, FKTN, LMNA , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
DCMNext with TTN.

By Ambry Genetics in United States.

TTR, EYA4, RAF1, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SCN5A, LAMP2, ABCC9, ACTC1, LAMA4, NKX2-5 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
DES mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

DES
Specificity
100 %
Genes
100 %
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

TTR, DSP, CRYAB, TAZ, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
DES. Complete sequencing.

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

DES
Specificity
100 %
Genes
100 %
ACTC1, DES, LDB3, MYH6, PSEN1, PSEN2, TCAP, TNNC1, TPM1, VCL. NextGeneDx.Complete sequencing by NGS.

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

PSEN1, PSEN2, DES, LDB3, TCAP, ACTC1, TNNC1, MYH6, TPM1, VCL
Specificity
10 %
Genes
100 %
Dilated cardiomyopathy (CMD, NGS panel for 22 genes).

By CGC Genetics in Portugal.

LMNA, TTN, DES, MYH7, LDB3, MYBPC3, TCAP, SGCD, ABCC9, ACTC1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, TPM1, TNNT2, RBM20, ACTN2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Neurogenic scapuloperoneal syndrome, Kaeser type (sequence analysis of DES gene).

By CGC Genetics in Portugal.

DES
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 %
Desminopathy (sequence analysis of DES gene).

By CGC Genetics in Portugal.

DES
Specificity
100 %
Genes
100 %
Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes).

By CGC Genetics in Portugal.

DSP, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes).

By CGC Genetics in Portugal.

DSP, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, LAMP2, ABCC9, PKP2, RYR2, ACTC1, MYLK2, TNNC1, TNNI3 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Desminopathy.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

DES
Specificity
100 %
Genes
100 %
DES-Related Dilated Cardiomyopathy.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

DES
Specificity
100 %
Genes
100 %
DES-RELATED ARVD/C.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

DES
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 %
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DSP, DES, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
12 %
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 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, EYA4, DSP, FBN1, NRAS, FKTN, LMNA, CAV3, DES, MYH7, MYBPC3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, TGFBR2, FBN2, ABCC9 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Dilated Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, GAA, EYA4, DSP, CRYAB, RAF1, SCO2, TAZ, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Myofibrillar Myopathy via DES Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DES
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 %
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DSP, CAV3, DES, LDB3, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Atrioventricular block Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

LMNA, DES, EMD, SCN1B, SCN5A, TRPM4, NKX2-5
Specificity
15 %
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 %
Myofibrillar myopathy and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, ACTA1, DNAJB6, KY, PYROXD1
Specificity
10 %
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 %
Myofibrillar myopathy and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, ACTA1, DNAJB6, KY, PYROXD1
Specificity
10 %
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 %
Myofibrillar myopathy and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, ACTA1, DNAJB6, KY, PYROXD1
Specificity
10 %
Genes
100 %
Hypertrophic cardiomyopathy - different panels.

By Institute of Human Genetics Cologne University in Germany.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Histological Myofibrillar Myopathy.

By MGZ Medical Genetics Center in Germany.

GNE, CRYAB, VCP, LMNA, TTN, DES, FLNC, MYOT, LDB3, BAG3, FHL1, PLEC
Specificity
9 %
Genes
100 %
Muscular Dystrophy: Limb Girdle - autosomal dominant.

By MGZ Medical Genetics Center in Germany.

LMNA, CAV3, DES, MYOT, DNAJB6
Specificity
20 %
Genes
100 %
Myofibrillar Myopathy, DES-Related.

By MGZ Medical Genetics Center in Germany.

DES
Specificity
100 %
Genes
100 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Malformations of Cortical Development.

By MGZ Medical Genetics Center in Germany.

DSP, FGFR3, DES, TMEM43, EFHC1, PKP2, RYR2, TRDN, TGFB3, DSG2, JUP, DSC2
Specificity
9 %
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 %
Myofibrillar Panel.

By FirmaLab in United States.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3
Specificity
17 %
Genes
100 %
Cardiac conduction abnormalities panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

DSP, LMNA, CAV3, CACNA1A, DES, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L, PKP2 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Cardiomyopathy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

TTR, EYA4, DSP, CRYAB, TAZ, DMD, GLA, FKTN, LMNA, CAV3, DES, MYH7, FLNC, MYOT, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Myofibrillar myopathy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1
Specificity
15 %
Genes
100 %
Myofibrillar myopathy panel.

By Centogene AG - the Rare Disease Company in Germany.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, DNAJB6
Specificity
13 %
Genes
100 %
Myopathy, myofibrillar, Desmin-related.

By Centogene AG - the Rare Disease Company in Germany.

DES
Specificity
100 %
Genes
100 %
Neurogenic scapuloperoneal syndrome, Kaeser type.

By Centogene AG - the Rare Disease Company in Germany.

DES
Specificity
100 %
Genes
100 %
Cardiomyopathy, dilated type 1I.

By Centogene AG - the Rare Disease Company in Germany.

DES
Specificity
100 %
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 %
Cardiomyopathy, restrictive Panel.

By CeGaT GmbH in Germany.

DES, MYH7, BAG3, ACTC1, TNNI3, MYPN, TNNT2
Specificity
15 %
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 %
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 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Panel.

By CeGaT GmbH in Germany.

DSP, LMNA, TTN, DES, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3
Specificity
8 %
Genes
100 %
Cardiomyopathy, restrictive Panel.

By CeGaT GmbH in Germany.

DES, MYH7, BAG3, ACTC1, TNNI3, MYPN, TNNT2
Specificity
15 %
Genes
100 %
Single gene testing DES.

By CeGaT GmbH in Germany.

DES
Specificity
100 %
Genes
100 %
Limb-Girdle Muscular Dystrophy type 1.

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

LMNA, CAV3, DES, MYOT, DNAJB6, TNPO3, HNRNPDL
Specificity
15 %
Genes
100 %
Arrhythmogenic right ventricular dysplasia 7.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DES
Specificity
100 %
Genes
100 %
Limb girdle muscular dystrophy 2R.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DES
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 %
DES.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DES
Specificity
100 %
Genes
100 %
Arrhythmia.

By Asper Biogene Asper Biogene LLC in Estonia.

DSP, LMNA, CAV3, DES, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

DSP, LMNA, TTN, DES, LDB3, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3
Specificity
8 %
Genes
100 %
Dilated Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9 , (...)

View the complete list with 22 more genes
Specificity
3 %
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 %
DES gene sequencing.

By Health in Code in Spain.

DES
Specificity
100 %
Genes
100 %
Dilated cardiomyopathy with restrictive phenotype Stage 2.

By Health in Code in Spain.

DES
Specificity
100 %
Genes
100 %
Dilated cardiomyopathy associated with skeletal myopathy and/or elevated CPK level Stage 2.

By Health in Code in Spain.

DES
Specificity
100 %
Genes
100 %
Restrictive cardiomyopathy Stage 2.

By Health in Code in Spain.

DES
Specificity
100 %
Genes
100 %
Restrictive Cardiomyopathy Panel.

By Health in Code in Spain.

HFE, TTR, GLA, LMNA, TTN, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, ACTC1, TNNC1, TNNI3, MYPN, TPM1, TNNT2, ACTN2, MYL2, MYL3
Specificity
5 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Hypertrophic Cardiomyopathy Short Panel.

By Health in Code in Spain.

TTR, GLA, PTPN11, DES, MYH7, FLNC, MYBPC3, ACTA1, LAMP2, TNNC1, TNNI3, PRKAG2, TPM1, TNNT2, MYL2, MYL3
Specificity
7 %
Genes
100 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

HFE, TTR, GAA, PSEN1, EYA4, GLB1, DSP, CRYAB, RAF1, DNAJC19, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, PTPN11, FKTN, SGCA , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
Skeletal Myopathy Panel.

By Health in Code in Spain.

AGL, GAA, DLD, SLC25A4, CRYAB, AGK, COQ2, TAZ, PHKA1, SURF1, SLC22A5, PMM2, DOLK, DMD, HRAS, FKTN, SGCA, SGCB, CAPN3, LMNA , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
100 %
Cardiac Conduction Disease Panel.

By Health in Code in Spain.

HFE, TTR, GAA, GLA, LMNA, DES, MYH7, LDB3, EMD, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNQ1, LAMP2, TRPM4, KCNE2, SCN4B, ACTC1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease.

By Health in Code in Spain.

ACADM, DSP, LMNA, CAV3, DES, FLNC, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Arrythmogenic Cardiomyopathy Panel.

By Health in Code in Spain.

DSP, LMNA, TTN, DES, FLNC, LDB3, TMEM43, SCN5A, PKP2, RYR2, CASQ2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3
Specificity
6 %
Genes
100 %
Hypertrophic Cardiomyopathy Extended Panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Arrhythmogenic cardiomyopathy.

By Health in Code in Spain.

DSP, LMNA, TTN, DES, FLNC, LDB3, TMEM43, SCN5A, CTNNB1, PKP2, RYR2, CASQ2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3, PKP4, PERP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Ventricular arrhythmia and sudden death without structural heart disease.

By Health in Code in Spain.

HFE, TTR, GAA, DSP, CAVIN1, GLA, LMNA, CAV3, DES, MYH7, FLNC, LDB3, SYNE1, TMEM43, SYNE2, EMD, KCNJ2, KCND3, KCNH2, SCN1B , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Skeletal myopathy Panel.

By Health in Code in Spain.

AGL, GAA, DLD, SLC25A4, CRYAB, AGK, CAVIN1, SLC25A3, COQ2, SCO2, TAZ, PHKA1, SURF1, FXN, SLC22A5, PMM2, SDHA, DOLK, DMD, HRAS , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Hypertrophic cardiomyopathy panel.

By Health in Code in Spain.

TTR, GLA, PTPN11, DES, MYH7, FLNC, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, TPM1, TNNT2, MYL2, MYL3
Specificity
6 %
Genes
100 %
Cardiac conduction disease Panel.

By Health in Code in Spain.

HFE, TTR, GAA, GLA, LMNA, DES, MYH7, LDB3, SYNE1, SYNE2, EMD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNQ1, LAMP2, TRPM4 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

EYA4, DSP, CRYAB, DNAJC19, TAZ, ALMS1, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, ANO5, BAG3, MYBPC3, ACTA1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
100 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Resctrictive cardiomyopathy.

By Health in Code in Spain.

HFE, TTR, GLA, LMNA, TTN, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, ACTC1, TNNC1, TNNI3, MYPN, TPM1, TNNT2, ACTN2, MYL2, MYL3
Specificity
5 %
Genes
100 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
DES-Related Dilated Cardiomyopathy.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

DES
Specificity
100 %
Genes
100 %
Invitae Arrhythmia Comprehensive Panel.

By Invitae in United States.

DSP, LMNA, CAV3, TTN, DES, FLNC, TMEM43, EMD, KCNJ2, KCNH2, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, ABCC9, CACNB2, GPD1L, PKP2, ANK2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Invitae Arrhythmogenic Cardiomyopathy Panel.

By Invitae in United States.

DSP, LMNA, TTN, DES, FLNC, TMEM43, EMD, SCN5A, PKP2, RYR2, TNNI3, PRKAG2, PLN, DSG2, JUP, TNNT2, RBM20, ACTN2, DSC2
Specificity
6 %
Genes
100 %
Invitae Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Invitae Dilated Cardiomyopathy Panel.

By Invitae in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, BAG3, MYBPC3, TMEM43 , (...)

View the complete list with 21 more genes
Specificity
3 %
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 Autophagic Vacuolar Myopathy Panel.

By Invitae in United States.

DES, LAMP2, VMA21
Specificity
34 %
Genes
100 %
Invitae Myofibrillar Myopathy Panel.

By Invitae in United States.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, DNAJB6
Specificity
13 %
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 %
Invitae Hypertrophic Cardiomyopathy Panel.

By Invitae in United States.

TTR, AGL, GAA, GLA, CAV3, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, TCAP, CACNA1C, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, TPM1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Myofibrillar myopathy: DES gene sequence analysis.

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

DES
Specificity
100 %
Genes
100 %
CARDIOMYOPATHY, DILATED (DCM.

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

TTR, PSEN1, EYA4, TAZ, DMD, LMNA, PSEN2, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SGCD, SCN5A, LAMP2, ACTC1, ANKRD1, TNNC1 , (...)

View the complete list with 12 more genes
Specificity
4 %
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.D..

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

LMNA, CAV3, DES, MYOT, DNAJB6
Specificity
20 %
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 %
Myofibrillar myopathy.

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

TRIM32, CRYAB, LMNA, TTN, DES, MYH7, FLNC, MYOT, LDB3, BAG3, FHL1, TPM3, DNAJB6
Specificity
8 %
Genes
100 %
Myofibrillar Myopathy, DES-Related: DES Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DES
Specificity
100 %
Genes
100 %
Myofibrillar Myopathy, DES-Related: DES Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DES
Specificity
100 %
Genes
100 %
Dilated Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, DSP, CRYAB, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PDLIM3 , (...)

View the complete list with 19 more genes
Specificity
3 %
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 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, SLC22A5, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, FKTN, LMNA, CAV3 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, DSP, CRYAB, RAF1, TAZ, SLC22A5, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, FKTN, LMNA , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Dilated Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, DSP, CRYAB, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL , (...)

View the complete list with 17 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 %
Familial Cardiomyopathy Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

TTR, EYA4, DSP, DNAJC19, TAZ, ALMS1, GLA, FKTN, LMNA, CAV3, DES, MYH7, LDB3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2 , (...)

View the complete list with 26 more genes
Specificity
3 %
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 %
Arrhythmia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DSP, CPT1A, SLC25A20, LMNA, CAV3, DES, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, KCNJ8, SCN3B, KCNE3, CACNB2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Pan-Cardio NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, GAA, EYA4, JAG1, DSP, CRYAB, RAF1, MRPL3, NDUFAF1, TAZ, COX15, FXN, SDHA, DOLK, DMD, GLA, PTPN11, FKTN, LMNA, PSEN2 , (...)

View the complete list with 81 more genes
Specificity
1 %
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 %
Sudden Death Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PSEN1, EYA4, DSP, SLC25A4, FBN1, TAZ, FKTN, LMNA, PSEN2, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, KCNJ2, KCNH2 , (...)

View the complete list with 48 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 %
Myofibrillar Myopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, DNAJB6
Specificity
13 %
Genes
100 %
Dilated Cardiomyopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DSP, CRYAB, TAZ, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, LAMP2, ABCC9, PKP2, ACTC1, LAMA4, ANKRD1, TNNC1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Hypertrophic Cardiomyopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2, FKTN, LMNA, CAV3, TTN, DES , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
100 %
DES.

By Fulgent Genetics Fulgent Genetics in United States.

DES
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 %
Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel.

By Blueprint Genetics in Finland.

DSP, RAF1, DMD, LMNA, TTN, DES, MYH7, FLNC, BAG3, MYBPC3, EMD, TCAP, HCN4, SCN5A, LAMP2, ABCC9, PKP2, RYR2, MYH6, PLN , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Arrhythmia Panel.

By Blueprint Genetics in Finland.

DSP, HADHA, LMNA, CAV3, TTN, DES, LDB3, BAG3, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, ABCC9, SCN3B , (...)

View the complete list with 35 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 %
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 %
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel.

By Blueprint Genetics in Finland.

DSP, LMNA, TTN, DES, MYH7, FLNC, LDB3, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3, CDH2
Specificity
6 %
Genes
100 %
Cardiomyopathy, dilated type 1I.

By Bioarray in Spain.

DES
Specificity
100 %
Genes
100 %
Desminopathy.

By Bioarray in Spain.

DES
Specificity
100 %
Genes
100 %
CardioGene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, CAV3, TTN, DES, MYH7 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Cardiomyopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, TTN, DES, MYH7, LDB3 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Arrhythmogenic Right Ventricular Cardiomyopathy.

By Genomics and Pathology Services Washington University in St. Louis in United States.

DSP, DES, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
13 %
Genes
100 %
Dilated Cardiomyopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TAZ, LMNA, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Restrictive Cardiomyopathy NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TTR, CRYAB, DES, MYH7, BAG3, MYBPC3, ACTC1, TNNI3, MYPN, TNNT2
Specificity
10 %
Genes
100 %
DES Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

DES
Specificity
100 %
Genes
100 %
Comprehensive Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

TTR, PSEN1, TAZ, GLA, LMNA, MT-TL1, MT-TK, PSEN2, CAV3, DES, MYH7, LDB3, MYBPC3, TCAP, SGCD, SCN5A, MT-TS1, MT-TS2, LAMP2, ABCC9 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Dilated Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

PSEN1, TAZ, LMNA, MT-TL1, MT-TK, PSEN2, DES, MYH7, LDB3, MYBPC3, TCAP, SGCD, SCN5A, MT-TS1, MT-TS2, ABCC9, ACTC1, LAMA4, TNNI3, MYH6 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Cardiomyopathy Exome Panel.

By Northwest Clinical Genomics Laboratory University of Washington in United States.

TTR, GAA, PSEN1, DSP, CRYAB, RAF1, TAZ, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Cardiac Arrhythmia Exome Panel.

By Northwest Clinical Genomics Laboratory University of Washington in United States.

DSP, GLA, LMNA, CAV3, TTN, DES, LDB3, TMEM43, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNE1, KCNQ1, CACNA1C, TRPM4 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Familial Dilated Cardiomyopathy Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

DSP, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, ACTC1, ANKRD1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Left Ventricular Noncompaction Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

DSP, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, ACTC1, ANKRD1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
DES Gene, entire coding region or targeted variant.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

DES
Specificity
100 %
Genes
100 %
Arrhythmogenic Right Ventricular Cardiomyopathy Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

DSP, LMNA, TTN, DES, TMEM43, SCN5A, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2
Specificity
8 %
Genes
100 %
FAMILIAL DILATED CARDIOMYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

EYA4, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SCN5A, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, TPM1, TNNT2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

PSEN1, EYA4, DSP, CRYAB, RAF1, MRPL3, TAZ, DMD, FKTN, LMNA, PSEN2, TTN, DES, MYH7, FLNC, LDB3, BAG3, MYBPC3, TCAP, SGCD , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

DSP, DES, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2, CTNNA3
Specificity
10 %
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 %
MYOFIBRILLAR MYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3
Specificity
17 %
Genes
100 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E (AUTOSOMAL DOMINANT) (DESMIN DEFICIENCY).

By Laboratorio de Genetica Clinica SL in Spain.

DES
Specificity
100 %
Genes
100 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R (AUT. RECESSIVE) (DESMIN DEFICIENCY).

By Laboratorio de Genetica Clinica SL in Spain.

DES
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 %
Myofibrillar Myopathy, Sequencing DES Gene.

By Reference Laboratory Genetics in Spain.

DES
Specificity
100 %
Genes
100 %
Familial Hypertrophic Cardiomyopathy, Panel Massive Sequencing (NGS) 37 Genes.

By Reference Laboratory Genetics in Spain.

TTR, AGL, GAA, SLC25A4, FXN, GLA, PTPN11, CAV3, TTN, DES, MYH7, FLNC, LDB3, MYBPC3, TCAP, LAMP2, ANK2, RYR2, ACTC1, MYLK2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

TTR, PSEN1, EYA4, TAZ, DMD, LMNA, PSEN2, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SGCD, SCN5A, LAMP2, ACTC1, TNNC1, TNNI3 , (...)

View the complete list with 10 more genes
Specificity
4 %
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 %
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes.

By Reference Laboratory Genetics in Spain.

ATP7A, OCRL, GARS, KIF1B, MFN2, VCP, KARS, REEP1, ELP1, SMN1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Myofibrillar Myopathy, Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, DNAJB6
Specificity
13 %
Genes
100 %
Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes.

By Reference Laboratory Genetics in Spain.

ACADM, DSP, LMNA, CAV3, TTN, DES, FLNC, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4 , (...)

View the complete list with 28 more genes
Specificity
3 %
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 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

TTR, RET, EYA4, PITX2, DSP, CRYAB, DNM1L, SLC25A3, TSFM, DNAJC19, PHOX2A, TAZ, DMD, DMPK, PTPN11, PHOX2B, FKTN, LMNA, CAV3, TTN , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %
Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

TTR, GAA, GLA, LMNA, DES, EMD, KCNJ2, SCN1B, HCN4, SCN5A, CACNA1D, LAMP2, TRPM4, ACTC1, NKX2-5, PRKAG2, TBX5, GJA5, SCN10A, TNNI3K
Specificity
5 %
Genes
100 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Panel (ARVD/ARVC Panel).

By Labor Dr. Wisplinghoff in Germany.

DSP, LMNA, TTN, DES, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
10 %
Genes
100 %
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, ACADVL, EYA4, CPT2, DSP, CRYAB, RAF1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Phosphorus Pan Arrhythmia Panel.

By Phosphorus Diagnostics LLC in United States.

DSP, LMNA, CAV3, TTN, DES, LDB3, TMEM43, EMD, KCNJ2, KCNH2, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, ABCC9, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, CPT2, RAF1, MTO1, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, GLA, CAV3, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TCAP, CACNA1C, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Phosphorus Arrhythmogenic Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

DSP, LMNA, TTN, DES, LDB3, TMEM43, EMD, SCN5A, PKP2, RYR2, TGFB3, TNNI3, PRKAG2, PLN, DSG2, JUP, TNNT2, RBM20, ACTN2, DSC2
Specificity
5 %
Genes
100 %
Phosphorus Dilated Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, LDB3, BAG3, MYBPC3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Phosphorus Restrictive Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, DES, MYH7, BAG3, MYBPC3, ACTC1, TNNI3, TNNT2
Specificity
13 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, RAF1, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, CAV3, NF1, DES , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, CPT2, MTO1, GLA, CAV3, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TCAP, CACNA1C, LAMP2, ACTC1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %

Alternate names

Muscular Dystrophy, Limb-girdle, Type 2r; Lgmd2r Is also known as ;autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency; lgmd2r.



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