Danon Disease

Description

Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease; {232300}) with 'normal acid maltase' or alpha-glucosidase (GAA ) (Danon et al., 1981). However, Nishino et al. (2000) stated that Danon disease is not a glycogen storage disease because glycogen is not always increased.Sugie et al. (2005) classified Danon disease as a form of autophagic vacuolar myopathy, characterized by intracytoplasmic autophagic vacuoles with sarcolemmal features. The characteristic vacuole is believed to be an autolysosome surrounded by secondarily-generated membranes containing sarcolemmal proteins, basal lamina, and acetylcholinesterase activity.X-linked myopathy with excessive autophagy (XMEA ) is a distinct disorder with similar pathologic features.

Clinical Features

Top most frequent phenotypes and symptoms related to Danon Disease

  • Intellectual disability
  • Global developmental delay
  • Pica
  • Muscle weakness
  • Cognitive impairment
  • Myopathy
  • Visual impairment
  • Hepatomegaly
  • Myopia
  • Skeletal muscle atrophy
And another 40 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Danon Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS XLID Panel.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, ARX , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
Lysosomal Storage Disease Panel.

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

GAA, COL2A1, PSAP, GNPTAB, GLB1, GNE, SMPD1, CTSD, HEXA, GM2A, HEXB, PHYH, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH , (...)

View the complete list with 55 more genes
Specificity
2 %
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 %
Hypertrophic Cardiomyopathy Panel.

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

TTR, RAF1, GLA, PTPN11, TTN, MYH7, MYBPC3, LAMP2, PKP2, PDLIM3, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, DSG2, TPM1, TNNT2, MYOZ2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Danon Disease - LAMP2 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

LAMP2
Specificity
100 %
Genes
100 %
Hypertrophic cardiomyopathy - full panel.

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

TTR, GLA, CAV3, MYH7, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, TPM1, TNNT2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3
Specificity
6 %
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 %
Hypertrophic cardiomyopathy - familial variant analysis.

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

TTR, GLA, CAV3, MYH7, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, TPM1, TNNT2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3
Specificity
6 %
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 %
Hypertrophic Cardiomyopathy Panel.

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

TTR, GAA, RAF1, SCO2, COX15, SURF1, FXN, GLA, PTPN11, CAV3, TTN, MYH7, LDB3, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, ANKRD1, TNNC1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
X-Linked Intellectual Disabilities Deletion/Duplication.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
X-linked Intellectual Disabilities Sequencing.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, SLC9A6, BCOR, NDUFA1, ARX, CDKL5, DMD , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
LAMP2 Sequencing.

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

LAMP2
Specificity
100 %
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 %
Hypertrophic Cardiomyopathy Panel (23 genes).

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

TTR, SCO2, SURF1, CAV3, LDB3, MYBPC3, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, TPM1, TNNT2, ACTN2, CSRP3, MYL2, MYL3 , (...)

View the complete list with 1 more genes
Specificity
5 %
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 %
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 %
Lysosomal Storage Disease Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

GAA, PSAP, GNPTAB, GLB1, SMPD1, CTSD, GRN, HEXA, GM2A, HEXB, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1 , (...)

View the complete list with 30 more genes
Specificity
2 %
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 %
HCM Panel (20 Genes).

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

TTR, RAF1, GLA, PTPN11, MYH7, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, TPM1, TNNT2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3
Specificity
5 %
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 %
HCM Sequencing Panel.

By GeneDx in United States.

TTR, GLA, MT-TK, CAV3, MYH7, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, TPM1, TNNT2, MYL2, MYL3, MT-TG, MT-TI, MT-TQ
Specificity
6 %
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 %
Danon Disease.

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

LAMP2
Specificity
100 %
Genes
100 %
Glycogen Storage Disease- Generalised.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

GAA, NHLRC1, EPM2A, LAMP2
Specificity
25 %
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: Neuro.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
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 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
HCMNext.

By Ambry Genetics in United States.

TTR, RAF1, FXN, GLA, PTPN11, MYH7, MYBPC3, TCAP, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
HCMFirst reflex HCMNext.

By Ambry Genetics in United States.

TTR, RAF1, FXN, GLA, PTPN11, MYH7, MYBPC3, TCAP, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
IDNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, MECP2, GAMT, GATM, TUSC3, SLC25A22, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
LAMP2 mutation analysis.

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

LAMP2
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 %
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis.

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

LMNA, CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Hypertrophic cardiomyopathy (HCM, NGS panel for 22 genes).

By CGC Genetics in Portugal.

GLA, CAV3, TTN, MYH7, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, TPM1, TNNT2, MYOZ2, CSRP3, MYL2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Danon disease (sequence analysis of LAMP2 gene).

By CGC Genetics in Portugal.

LAMP2
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 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics in Portugal.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Danon Disease.

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

LAMP2
Specificity
100 %
Genes
100 %
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ALDOA, ALDOB, PC, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PCK2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, HSD17B10, NDP, HPRT1, NHS, MECP2, OTC, PDHA1, GK, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, ARX, CDKL5, IDS , (...)

View the complete list with 108 more genes
Specificity
1 %
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 %
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, GAA, RAF1, SCO2, GLA, KRAS, PTPN11, PRKAR1A, CAV3, TTN, MYH7, LDB3, BAG3, FHL1, MYBPC3, TCAP, MYO6, LAMP2, RYR2, ACTC1 , (...)

View the complete list with 18 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 %
Danon Disease/Glycogen Storage Disease IIb via the LAMP2 Gene.

By PreventionGenetics PreventionGenetics in United States.

LAMP2
Specificity
100 %
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 %
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 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
LAMP2.

By MGZ Medical Genetics Center in Germany.

LAMP2
Specificity
100 %
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 %
Newborn: Cardiomyopathy as presenting sign.

By MGZ Medical Genetics Center in Germany.

ACAD9, ACADM, ACADS, ACADVL, GAA, CPT2, MTO1, AGK, TMEM70, SLC25A3, GFM1, SCO2, TAZ, LPIN1, COX15, CPT1A, GBE1, SLC22A5, SLC25A20, SDHA , (...)

View the complete list with 4 more genes
Specificity
5 %
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 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
X-Linked Mental Retardation.

By MGZ Medical Genetics Center in Germany.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, SLC6A8 , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
100 %
Muscle Disease with CNS Involvement.

By MGZ Medical Genetics Center in Germany.

FKTN, POMGNT1, FKRP, TTN, MYH7, CCDC78, SYNE1, TRAPPC11, POMT2, POMT1, ISPD, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, RXYLT1, LARGE1, B3GALNT2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Newborn: “Floppy Infant “.

By MGZ Medical Genetics Center in Germany.

GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Myopathy.

By MGZ Medical Genetics Center in Germany.

ACADVL, TWNK, CPT2, POLG, RRM2B, TK2, PUS1, ISCU, ETFB, ETFA, ETFDH, SLC22A5, CHKB, LAMP2, FDX2
Specificity
7 %
Genes
100 %
Mitochondrial Cardiomyopathy.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, ACADVL, CPT2, MTO1, AGK, TMEM70, SLC25A3, GFM1, SCO2, TAZ, COX15, CPT1A, SLC22A5, SLC25A20, SDHA, LAMP2
Specificity
6 %
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 %
Infancy: Cardiomyopathies.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, ACADVL, CPT2, DSP, RAF1, MTO1, AGK, TMEM70, SLC25A3, SCO2, TAZ, COX15, CPT1A, SLC22A5, SLC25A20, SDHA, GLA , (...)

View the complete list with 3 more genes
Specificity
5 %
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 %
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 %
Danon disease.

By Centogene AG - the Rare Disease Company in Germany.

LAMP2
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 %
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 %
Cardiomyopathy, hypertrophic Panel.

By CeGaT GmbH in Germany.

TTR, GLA, CAV3, TTN, MYH7, LDB3, FHL1, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Hypertrophic Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

TTR, SLC25A4, GLA, CAV3, MYH7, LDB3, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2 , (...)

View the complete list with 8 more genes
Specificity
4 %
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 %
Glycogen Storage Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Lysosomal Storage Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

GAA, PSAP, GNPTAB, GLB1, SMPD1, CTSD, HEXA, GM2A, HEXB, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1, GALC , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Hypertrophic cardiomyopathy associated with pre-exctiation, WPW sndrome and/or conduction disorders.

By Health in Code in Spain.

LAMP2, PRKAG2
Specificity
50 %
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 %
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 %
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 %
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 %
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 %
Danon disease.

By Praxis fuer Humangenetik Wien in Austria.

LAMP2
Specificity
100 %
Genes
100 %
Danon disease.

By MedGene in Slovakia.

LAMP2
Specificity
100 %
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 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 Left Ventricular Noncompaction Panel.

By Invitae in United States.

DSP, TAZ, LMNA, MYH7, MYBPC3, HCN4, SCN5A, LAMP2, RYR2, ACTC1, TNNI3, PLN, TPM1, TNNT2, VCL
Specificity
7 %
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 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 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 %
Invitae Muscle Glycogen Storage Disease Panel.

By Invitae in United States.

ALDOA, GAA, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, RBCK1, GYG1
Specificity
8 %
Genes
100 %
Invitae Comprehensive Lysosomal Storage Disorders Panel.

By Invitae in United States.

GAA, PSAP, GNPTAB, GLB1, SMPD1, CTSD, GRN, HEXA, GM2A, HEXB, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Invitae Comprehensive Glycogen Storage Disease Panel.

By Invitae in United States.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Danon disease: LAMP2 gene sequence analysis.

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

LAMP2
Specificity
100 %
Genes
100 %
CARDIOMYOPATHY HYPERTROPHIC PANEL.

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

GLA, CAV3, TTN, MYH7, LDB3, MYBPC3, TCAP, LAMP2, RYR2, PDLIM3, ACTC1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, TPM1, TNNT2, JPH2 , (...)

View the complete list with 6 more genes
Specificity
4 %
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 %
GLYCOGEN STORAGE DISEASE.

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

AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Danon Disease: LAMP2 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LAMP2
Specificity
100 %
Genes
100 %
Danon Disease: LAMP2 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LAMP2
Specificity
100 %
Genes
100 %
Hypertrophic Cardiomyopathy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GLA, CAV3, TTN, MYH7, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, MYH6, PRKAG2, MYPN, TPM1, TNNT2, JPH2, MYOZ2, MYL2, MYL3
Specificity
6 %
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 %
Lysosomal Storage Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, PSAP, GNPTAB, GLB1, GNE, SMPD1, FBN1, CTSD, GRN, HEXA, GM2A, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Glycogen Storage Disorders- Muscle: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, GAA, PGM1, ENO3, GYS1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2
Specificity
9 %
Genes
100 %
Glycogen Storage Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, ENO3, GYS1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, SLC2A2
Specificity
5 %
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 %
Glycogen Storage Disorders- Muscle: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, GAA, PGM1, ENO3, GYS1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2
Specificity
9 %
Genes
100 %
Glycogen Storage Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, ENO3, GYS1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, SLC2A2
Specificity
5 %
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 %
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 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
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 %
XLID NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1 , (...)

View the complete list with 87 more genes
Specificity
1 %
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 %
LAMP2.

By Fulgent Genetics Fulgent Genetics in United States.

LAMP2
Specificity
100 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
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 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GLDC, AMT, HEXA, GM2A, SUOX, ALDH5A1 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
100 %
X-linked Intellectual Disability Panel.

By Blueprint Genetics in Finland.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
Glycogen Storage Disorder Panel.

By Blueprint Genetics in Finland.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1 , (...)

View the complete list with 9 more genes
Specificity
4 %
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 %
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 %
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel.

By Blueprint Genetics in Finland.

AGL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, GAA, HNF1A, SLC37A4, SLC16A1, GCK, ACSF3, PHKA2, HMGCL, PYGL, G6PC, PHKG2, PGM1, LDHA , (...)

View the complete list with 30 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 %
Hypertrophic Cardiomyopathy (HCM) Panel.

By Blueprint Genetics in Finland.

TTR, ACAD9, AGL, ACADVL, GAA, ELAC2, SLC25A4, NDUFAF2, RAF1, AGK, COX15, FXN, BRAF, GLA, HRAS, SOS1, CBL, MYH7, FLNC, BAG3 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Genetic Study of Hypertrophic Cardiomyopathy Panel (2 panels: 57 genes or 18 genes).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

CRYAB, BRAF, MYH7, FLNC, LDB3, FHL1, MYBPC3, TCAP, LAMP2, ACTC1, TNNC1, TNNI3, TPM1, TNNT2, CSRP3, MYL2, MYL3
Specificity
6 %
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 %
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 %
Hypertrophic Cardiomyopathy Gene Set.

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

TTR, RAF1, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, MYH7, MYBPC3, LAMP2, ACTC1, MYLK2, TNNC1, TNNI3 , (...)

View the complete list with 11 more genes
Specificity
4 %
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 %
Hypertrophic Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

TTR, GLA, MT-TK, CAV3, MYH7, MYBPC3, LAMP2, BMPR2, TNNC1, TNNI3, PRKAG2, TPM1, TNNT2, MYL2, MYL3, MT-TG, MT-TI, MT-TQ
Specificity
6 %
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 %
Wolff-Parkinson White Panel by NGS.

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

TTR, RAF1, GLA, PTPN11, CAV3, MYH7, MYBPC3, TCAP, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, TPM1, TNNT2, JPH2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Cardiomyopathy, familial hypertrophic Panel by NGS.

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

TTR, RAF1, GLA, PTPN11, CAV3, MYH7, MYBPC3, TCAP, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, TPM1, TNNT2, JPH2 , (...)

View the complete list with 5 more genes
Specificity
4 %
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 %
LAMP2 Gene, entire coding region or targeted variant.

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

LAMP2
Specificity
100 %
Genes
100 %
GLYCOGEN STORAGE DISEASE, TYPE 2B – DANON DISEASE.

By Laboratorio de Genetica Clinica SL in Spain.

LAMP2
Specificity
100 %
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 %
GLYCOGEN STORAGE: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, GYG1
Specificity
6 %
Genes
100 %
Danon Disease, Sequencing LAMP2 Gene.

By Reference Laboratory Genetics in Spain.

LAMP2
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 %
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 %
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes.

By Reference Laboratory Genetics in Spain.

GAA, AMACR, HSD17B4, PSAP, GNPTAB, GLB1, SMPD1, DNM1L, CAT, SCP2, CTSD, AGPS, LMBRD1, HEXA, GM2A, HEXB, PHYH, CTSK, ACOX1, AGXT , (...)

View the complete list with 58 more genes
Specificity
2 %
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 %
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 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 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 Left Ventricular Noncompaction Panel.

By Phosphorus Diagnostics LLC in United States.

DSP, TAZ, LMNA, MYH7, LDB3, MYBPC3, HCN4, SCN5A, LAMP2, RYR2, ACTC1, TNNI3, PLN, TPM1, TNNT2, ACTN2, VCL
Specificity
6 %
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

Danon Disease Is also known as vacuolar cardiomyopathy and myopathy, x-linked, pseudoglycogenosis ii, antopol disease, lysosomal glycogen storage disease without acid maltase deficiency, formerly, glycogen storage disease iib;gsd2b, formerly, gsd iib, formerly;danon disease; gsd due to lamp-2 deficiency; glycogenosis due to lamp-2 deficiency; lysosomal glycogen storage disease with normal acid maltase activity.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE; MRXSBRK OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG HEMOGLOBIN, HIGH ALTITUDE ADAPTATION; HALAH ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more