LAMP2 gene related symptoms and diseases

All the information presented here about the LAMP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LAMP2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Cone/cone-rod dystrophy Very Common - Between 80% and 100% cases
Generalized amyotrophy Very Common - Between 80% and 100% cases
Neurodevelopmental delay Very Common - Between 80% and 100% cases
Back pain Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LAMP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal electroretinogram
  • Ventricular arrhythmia
  • EMG: myopathic abnormalities
  • Respiratory insufficiency due to muscle weakness
  • Hypokinesia
  • Ventricular tachycardia
  • Hyperlipidemia
  • Exercise intolerance

And 65 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to LAMP2 gene

Here you will find a list of rare diseases related to the LAMP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Alternate names

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked, antopol disease, gsd due to lamp-2 deficiency, lysosomal glycogen storage disease without acid maltase deficiency, formerly, glycogenosis due to lamp-2 deficiency, gsd2b, formerly, gsd iib, formerly, glycogen stora

Description

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

Most common symptoms of GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

SOURCES: MESH ORPHANET OMIM


Potential gene panels for LAMP2 gene

NGS XLID Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Lysosomal Storage Disease Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1

More info about this panel

Comprehensive Cardiac Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

More info about this panel

Neuromuscular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2

More info about this panel

Dilated & Arrhythmogenic Cardiomyopathies Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Dilated & Arrhythmogenic Cardiomyopathies Panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN

More info about this panel

Hypertrophic Cardiomyopathy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hypertrophic Cardiomyopathy Panel that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTN TTR MYOZ2 ACTC1 ACTN2 CSRP3

More info about this panel

Danon Disease - LAMP2 Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the LAMP2 gene.

More info about this panel

Hypertrophic cardiomyopathy - full panel Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Hypertrophic cardiomyopathy - full panel that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTR MYOZ2 ACTC1 CAV3 ACTN2 CSRP3

More info about this panel

Dilated cardiomyopathy - full panel Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Dilated cardiomyopathy - full panel that also includes the following genes: SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL ACTC1

More info about this panel

Dilated cardiomyopathy - familial variant analysis Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Dilated cardiomyopathy - familial variant analysis that also includes the following genes: SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL ACTC1

More info about this panel

Hypertrophic cardiomyopathy - familial variant analysis Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Hypertrophic cardiomyopathy - familial variant analysis that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTR MYOZ2 ACTC1 CAV3 ACTN2 CSRP3

More info about this panel

Pan-cardiomyopathy panel Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Pan-cardiomyopathy panel that also includes the following genes: RYR2 SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

Cardiomyopathy Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1

More info about this panel

Dilated Cardiomyopathy Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dilated Cardiomyopathy Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

Hypertrophic Cardiomyopathy Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hypertrophic Cardiomyopathy Panel that also includes the following genes: SCO2 SURF1 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

More info about this panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-linked Intellectual Disabilities Sequencing Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

LAMP2 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the LAMP2 gene.

More info about this panel

Dilated Cardiomyopathy Panel (30 genes) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Dilated Cardiomyopathy Panel (30 genes) that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

More info about this panel

Hypertrophic Cardiomyopathy Panel (23 genes) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hypertrophic Cardiomyopathy Panel (23 genes) that also includes the following genes: SCO2 SURF1 TNNC1 TNNI3 TNNT2 TPM1 TTR VCL ACTC1 CAV3

More info about this panel

Comprehensive Cardiomyopathy Panel (37 genes) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Comprehensive Cardiomyopathy Panel (37 genes) that also includes the following genes: SCN5A SCO2 SGCD SURF1 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

DCM and DMD related Cardiomyopathy Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center DCM and DMD related Cardiomyopathy that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

More info about this panel

Neuromuscular Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2

More info about this panel

Lysosomal Storage Disease Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN

More info about this panel

HCM Panel (20 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine HCM Panel (20 Genes) that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTR MYOZ2 ACTC1 ACTN2 CSRP3 NEXN

More info about this panel

Pan Cardiomyopathy Panel (62 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pan Cardiomyopathy Panel (62 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN

More info about this panel

Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCA SGCB SGCD SGCG

More info about this panel

Comprehensive Cardiomyopathy Panel Panel

United States.

By GeneDx Comprehensive Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3

More info about this panel

HCM Sequencing Panel Panel

United States.

By GeneDx HCM Sequencing Panel that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTR ACTC1 CAV3 GLA LAMP2 MT-TG

More info about this panel

DCM/LVNC Sequencing Panel Panel

United States.

By GeneDx DCM/LVNC Sequencing Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

Danon Disease Panel

Czech Republic.

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

This panel specifically test the LAMP2 gene.

More info about this panel

Glycogen Storage Disease- Generalised Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Glycogen Storage Disease- Generalised that also includes the following genes: NHLRC1 EPM2A GAA LAMP2

More info about this panel

CardioNext with TTN Panel

United States.

By Ambry Genetics CardioNext with TTN that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TAZ TBX1 TBX20 TBX5

More info about this panel

CMNext with TTN Panel

United States.

By Ambry Genetics CMNext with TTN that also includes the following genes: RYR2 SCN5A TAZ TBX20 TCAP TGFB3 TMPO TNNC1 TNNI3 TNNT2

More info about this panel

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

CustomNext: Cardio Panel

United States.

By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20

More info about this panel

DCMNext with TTN Panel

United States.

By Ambry Genetics DCMNext with TTN that also includes the following genes: SCN5A TAZ TBX20 TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

HCMNext Panel

United States.

By Ambry Genetics HCMNext that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR VCL MYOZ2 JPH2 ACTC1

More info about this panel

HCMFirst reflex HCMNext Panel

United States.

By Ambry Genetics HCMFirst reflex HCMNext that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR VCL MYOZ2 JPH2 ACTC1

More info about this panel

IDNext Panel

United States.

By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2

More info about this panel

LAMP2 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the LAMP2 gene.

More info about this panel

Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

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

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN CACNA1C

More info about this panel

Hypertrophic cardiomyopathy (HCM, NGS panel for 22 genes) Panel

Portugal.

By CGC Genetics Hypertrophic cardiomyopathy (HCM, NGS panel for 22 genes) that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL MYOZ2 ACTC1 CAV3

More info about this panel

Danon disease (sequence analysis of LAMP2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LAMP2 gene.

More info about this panel

Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes) Panel

Portugal.

By CGC Genetics Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes) that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SNTA1 TCAP TNNC1 TNNI3 TNNT2

More info about this panel

Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes) Panel

Portugal.

By CGC Genetics Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes) that also includes the following genes: RYR2 SGCD TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL MYOZ2

More info about this panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Danon Disease Panel

United States.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine

This panel specifically test the LAMP2 gene.

More info about this panel

Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA ALDOB GBE1

More info about this panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS

More info about this panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel

Dilated Cardiomyopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dilated Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Pan Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN5A SCO2 SGCD SGCG BRAF SOS1 TAZ TCAP TGFB3

More info about this panel

Danon Disease/Glycogen Storage Disease IIb via LAMP2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LAMP2 gene.

More info about this panel

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel that also includes the following genes: RYR1 SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 RBCK1 COQ8A

More info about this panel

Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCO2 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

More info about this panel

Hypertrophic cardiomyopathy - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hypertrophic cardiomyopathy - different panels that also includes the following genes: RIT1 MRPL3 RRAS SLC22A5 BRAF SOS1 SOS2 SURF1 TNNI3 TNNT2

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

LAMP2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the LAMP2 gene.

More info about this panel

Muscle Pain - fluctuating CK - Rhabdomyolysis Panel

Germany.

By MGZ Medical Genetics Center Muscle Pain - fluctuating CK - Rhabdomyolysis that also includes the following genes: RYR1 SCN4A TTN TTR LPIN1 CACNA1S FKRP CLCN1 CPT2 ANO5

More info about this panel

Newborn: Cardiomyopathy as presenting sign Panel

Germany.

By MGZ Medical Genetics Center Newborn: Cardiomyopathy as presenting sign that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ TTN LPIN1 GFM1 SLC25A20 MTO1

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

X-Linked Mental Retardation Panel

Germany.

By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3

More info about this panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Muscle Disease with CNS Involvement Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with CNS Involvement that also includes the following genes: SNAP25 TTN RXYLT1 CCDC78 MICU1 B4GAT1 SYNE1 FKRP POMGNT1 CHKB

More info about this panel

Newborn: “Floppy Infant “ Panel

Germany.

By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1

More info about this panel

Mitochondrial Myopathy Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Myopathy that also includes the following genes: SLC22A5 TWNK TK2 PUS1 RRM2B CHKB CPT2 ISCU FDX2 ETFA

More info about this panel

Mitochondrial Cardiomyopathy Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Cardiomyopathy that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ GFM1 SLC25A20 MTO1 AARS2 ACAD9

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

Infancy: Cardiomyopathies Panel

Germany.

By MGZ Medical Genetics Center Infancy: Cardiomyopathies that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ SLC25A20 MTO1 AARS2 ACAD9 AGK

More info about this panel

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1

More info about this panel

Cardiomyopathy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiomyopathy panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Danon disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LAMP2 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Congenital and Distal Myopathies Panel Panel

Germany.

By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3

More info about this panel

Cardiomyopathy, hypertrophic Panel Panel

Germany.

By CeGaT GmbH Cardiomyopathy, hypertrophic Panel that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL MYOZ2 JPH2

More info about this panel

Hypertrophic Cardiomyopathy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hypertrophic Cardiomyopathy that also includes the following genes: SLC25A4 SOS1 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

More info about this panel

Dilated Cardiomyopathy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Dilated Cardiomyopathy that also includes the following genes: SCN5A SGCD TAZ TBX20 TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Glycogen Storage Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Glycogen Storage Disease that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1 GYG1

More info about this panel

Lysosomal Storage Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Lysosomal Storage Disease that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

Hypertrophic cardiomyopathy associated with pre-exctiation, WPW sndrome and/or conduction disorders Panel

Spain.

By Health in Code Hypertrophic cardiomyopathy associated with pre-exctiation, WPW sndrome and/or conduction disorders that also includes the following genes: LAMP2 PRKAG2

More info about this panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA

More info about this panel

Hypertrophic Cardiomyopathy Short Panel Panel

Spain.

By Health in Code Hypertrophic Cardiomyopathy Short Panel that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTR ACTA1 DES FLNC GLA LAMP2

More info about this panel

Dilated Cardiomyopathy Panel Panel

Spain.

By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP

More info about this panel

Skeletal Myopathy Panel Panel

Spain.

By Health in Code Skeletal Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SLC22A5 SLC25A4 SURF1 TAZ TCAP TNNI3 MYOT

More info about this panel

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Spain.

By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4

More info about this panel

Cardiac Conduction Disease Panel Panel

Spain.

By Health in Code Cardiac Conduction Disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 LDB3 HCN4

More info about this panel

Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease Panel

Spain.

By Health in Code Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNC1 TNNI3 TNNT2

More info about this panel

Cardiomyopathies Panel Panel

Spain.

By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1

More info about this panel

Hypertrophic Cardiomyopathy Extended Panel Panel

Spain.

By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10

More info about this panel

Ventricular arrhythmia and sudden death without structural heart disease Panel

Spain.

By Health in Code Ventricular arrhythmia and sudden death without structural heart disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TBX5 TNNC1 TNNI3

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Skeletal myopathy Panel Panel

Spain.

By Health in Code Skeletal myopathy Panel that also includes the following genes: SCO2 SDHA SGCA SGCB SGCD SLC22A5 SLC25A3 SLC25A4 SURF1 TAZ

More info about this panel

Hypertrophic cardiomyopathy panel Panel

Spain.

By Health in Code Hypertrophic cardiomyopathy panel that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTR ACTC1 DES FLNC GLA LAMP2

More info about this panel

Cardiac conduction disease Panel Panel

Spain.

By Health in Code Cardiac conduction disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 IRX3 KCNK17

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Hypertrophic cardiomyopathy extended panel Panel

Spain.

By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel

Danon disease Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the LAMP2 gene.

More info about this panel

Danon disease Panel

Slovakia.

By MedGene

This panel specifically test the LAMP2 gene.

More info about this panel

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Panel

United States.

By Invitae Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TGFB3 TNNC1 TNNI3 TNNT2

More info about this panel

Invitae Cardiomyopathy Comprehensive Panel Panel

United States.

By Invitae Invitae Cardiomyopathy Comprehensive Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Invitae Dilated Cardiomyopathy Panel Panel

United States.

By Invitae Invitae Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Invitae Left Ventricular Noncompaction Panel Panel

United States.

By Invitae Invitae Left Ventricular Noncompaction Panel that also includes the following genes: RYR2 SCN5A TAZ TNNI3 TNNT2 TPM1 VCL ACTC1 HCN4 DSP

More info about this panel

Invitae Comprehensive Neuromuscular Disorders Panel Panel

United States.

By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1

More info about this panel

Invitae Autophagic Vacuolar Myopathy Panel Panel

United States.

By Invitae Invitae Autophagic Vacuolar Myopathy Panel that also includes the following genes: VMA21 DES LAMP2

More info about this panel

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel

United States.

By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1

More info about this panel

Invitae Hypertrophic Cardiomyopathy Panel Panel

United States.

By Invitae Invitae Hypertrophic Cardiomyopathy Panel that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR VCL CACNA1C ACTC1 CAV3

More info about this panel

Invitae Muscle Glycogen Storage Disease Panel Panel

United States.

By Invitae Invitae Muscle Glycogen Storage Disease Panel that also includes the following genes: RBCK1 ENO3 GAA ALDOA GBE1 GYG1 GYS1 LAMP2 LDHA PFKM

More info about this panel

Invitae Comprehensive Lysosomal Storage Disorders Panel Panel

United States.

By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

Invitae Comprehensive Glycogen Storage Disease Panel Panel

United States.

By Invitae Invitae Comprehensive Glycogen Storage Disease Panel that also includes the following genes: SLC2A2 RBCK1 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1

More info about this panel

Danon disease: LAMP2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the LAMP2 gene.

More info about this panel

CARDIOMYOPATHY HYPERTROPHIC PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CARDIOMYOPATHY HYPERTROPHIC PANEL that also includes the following genes: RYR2 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL MYOZ2 JPH2

More info about this panel

CARDIOMYOPATHY, DILATED (DCM Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CARDIOMYOPATHY, DILATED (DCM that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

GLYCOGEN STORAGE DISEASE Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases GLYCOGEN STORAGE DISEASE that also includes the following genes: SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1

More info about this panel

Danon Disease: LAMP2 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the LAMP2 gene.

More info about this panel

Danon Disease: LAMP2 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the LAMP2 gene.

More info about this panel

Hypertrophic Cardiomyopathy: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hypertrophic Cardiomyopathy: Sequencing and Deletion/Duplication Panel that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTN TTR MYOZ2 JPH2 ACTC1 CAV3

More info about this panel

Dilated Cardiomyopathy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dilated Cardiomyopathy: Sequencing Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

Lysosomal Storage Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3

More info about this panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Glycogen Storage Disorders- Muscle: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Muscle: Sequencing Panel that also includes the following genes: AGL ENO3 GAA GBE1 GYS1 LAMP2 PFKM PGAM2 PGM1 PHKB

More info about this panel

Glycogen Storage Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders: Comprehensive Sequencing Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA GBE1 GYS1 GYS2

More info about this panel

Comprehensive Cardiovascular: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF

More info about this panel

Cardiomyopathy: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cardiomyopathy: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TNNC1 TNNI3

More info about this panel

Cardiomyopathy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cardiomyopathy: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 TAZ TCAP TNNC1

More info about this panel

Comprehensive Cardiovascular: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI BRAF SNTA1

More info about this panel

Dilated Cardiomyopathy: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dilated Cardiomyopathy: Deletion/Duplication Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

Glycogen Storage Disorders- Muscle: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Muscle: Deletion/Duplication Panel that also includes the following genes: AGL ENO3 GAA GBE1 GYS1 LAMP2 PFKM PGAM2 PGM1 PHKB

More info about this panel

Glycogen Storage Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders: Deletion/Duplication Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA GBE1 GYS1 GYS2

More info about this panel

Familial Cardiomyopathy Full Gene Sequencing Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Familial Cardiomyopathy Full Gene Sequencing Panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TGFB3 TMPO TNNC1 TNNI3 TNNT2

More info about this panel

Pan-Cardio NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1

More info about this panel

Lysosomal Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Sudden Death Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Sudden Death Syndrome NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SLC25A4 SNTA1 TAZ TCAP TGFB3

More info about this panel

XLID NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Dilated Cardiomyopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Dilated Cardiomyopathy NGS Panel that also includes the following genes: SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL ACTC1

More info about this panel

Hypertrophic Cardiomyopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hypertrophic Cardiomyopathy NGS Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3

More info about this panel

LAMP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LAMP2 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

Cardiomyopathy Panel Panel

Finland.

By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB

More info about this panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

More info about this panel

X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

More info about this panel

Glycogen Storage Disorder Panel Panel

Finland.

By Blueprint Genetics Glycogen Storage Disorder Panel that also includes the following genes: SLC2A2 RBCK1 NHLRC1 AGL ENO3 EPM2A FBP1 G6PC SLC37A4 GAA

More info about this panel

Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel Panel

Finland.

By Blueprint Genetics Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel that also includes the following genes: RYR2 SCN5A TCAP TNNT2 TPM1 TTN VCL JPH2 FBXO32 HCN4

More info about this panel

Comprehensive Cardiology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel

Finland.

By Blueprint Genetics Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel that also includes the following genes: SLC16A1 SLC2A2 HNF1A UCP2 RBCK1 NHLRC1 PTF1A ACSF3 AGL ENO3

More info about this panel

Dilated Cardiomyopathy (DCM) Panel Panel

Finland.

By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

Hypertrophic Cardiomyopathy (HCM) Panel Panel

Finland.

By Blueprint Genetics Hypertrophic Cardiomyopathy (HCM) Panel that also includes the following genes: BRAF SLC25A4 SOS1 TNNI3 TNNT2 TPM1 TTR ACTA1 ELAC2 JPH2

More info about this panel

Genetic Study of Hypertrophic Cardiomyopathy Panel (2 panels: 57 genes or 18 genes) Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Genetic Study of Hypertrophic Cardiomyopathy Panel (2 panels: 57 genes or 18 genes) that also includes the following genes: BRAF TCAP TNNC1 TNNI3 TNNT2 TPM1 ACTC1 LDB3 CRYAB CSRP3

More info about this panel

CardioGene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis CardioGene Set that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A SGCD BRAF SNTA1 SOS1 TAZ

More info about this panel

Cardiomyopathy Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Cardiomyopathy Gene Set that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1

More info about this panel

Dilated Cardiomyopathy Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Dilated Cardiomyopathy Gene Set that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

Hypertrophic Cardiomyopathy Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Hypertrophic Cardiomyopathy Gene Set that also includes the following genes: RIT1 BRAF SOS1 TNNC1 TNNI3 TNNT2 TPM1 TTR MYOZ2 ACTC1

More info about this panel

Comprehensive Cardiomyopathy Panel Panel

United States.

By ApolloGen, Inc. Comprehensive Cardiomyopathy Panel that also includes the following genes: SCN5A BMPR2 SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Hypertrophic Cardiomyopathy Panel Panel

United States.

By ApolloGen, Inc. Hypertrophic Cardiomyopathy Panel that also includes the following genes: BMPR2 TNNC1 TNNI3 TNNT2 TPM1 TTR CAV3 GLA LAMP2 MT-TG

More info about this panel

Cardiomyopathy Exome Panel Panel

United States.

By Northwest Clinical Genomics Laboratory University of Washington Cardiomyopathy Exome Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1

More info about this panel

Wolff-Parkinson White Panel by NGS Panel

Canada.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Wolff-Parkinson White Panel by NGS that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR MYOZ2 JPH2 ACTC1 CAV3

More info about this panel

Cardiomyopathy, familial hypertrophic Panel by NGS Panel

Canada.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Cardiomyopathy, familial hypertrophic Panel by NGS that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR MYOZ2 JPH2 ACTC1 CAV3

More info about this panel

Familial Dilated Cardiomyopathy Panel by NGS Panel

Canada.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Familial Dilated Cardiomyopathy Panel by NGS that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

More info about this panel

Left Ventricular Noncompaction Panel by NGS Panel

Canada.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Left Ventricular Noncompaction Panel by NGS that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

More info about this panel

LAMP2 Gene, entire coding region or targeted variant Panel

Canada.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute

This panel specifically test the LAMP2 gene.

More info about this panel

GLYCOGEN STORAGE DISEASE, TYPE 2B – DANON DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the LAMP2 gene.

More info about this panel

FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL that also includes the following genes: MRPL3 SCN5A SGCD TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2

More info about this panel

GLYCOGEN STORAGE: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL GLYCOGEN STORAGE: NGS PANEL that also includes the following genes: AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1 GYS2

More info about this panel

FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL that also includes the following genes: SCN5A SGCD TAZ TBX20 TBX5 TCAP TMPO TNNC1 TNNI3 TPM1

More info about this panel

FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL that also includes the following genes: MRPL3 SCN5A TCAP KLF10 TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

More info about this panel

Danon Disease, Sequencing LAMP2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LAMP2 gene.

More info about this panel

Familial Hypertrophic Cardiomyopathy, Panel Massive Sequencing (NGS) 37 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Hypertrophic Cardiomyopathy, Panel Massive Sequencing (NGS) 37 Genes that also includes the following genes: RYR2 SLC25A4 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

More info about this panel

Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

By Reference Laboratory Genetics Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes Panel

Spain.

By Reference Laboratory Genetics Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 TNNC1 TNNI3

More info about this panel

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

Spain.

By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5

More info about this panel

Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel

Spain.

By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel

Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel

Spain.

By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ

More info about this panel

Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

By Reference Laboratory Genetics Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: SCN10A SCN1B SCN5A TBX5 TTR CACNA1D ACTC1 HCN4 TRPM4 TNNI3K

More info about this panel

Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN5A SDHA SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2

More info about this panel

Phosphorus Pan Cardiomyopathy Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TGFB3 TNNC1 TNNI3 TNNT2

More info about this panel

Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2

More info about this panel

Phosphorus Pan Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 SOS2 TAZ

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 SNTA1 TAZ TCAP TGFB3

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF

More info about this panel

Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 SNTA1 TAZ TCAP

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Panel that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR VCL CACNA1C ACTC1 CAV3

More info about this panel

Phosphorus Dilated Cardiomyopathy Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Phosphorus Left Ventricular Noncompaction Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Left Ventricular Noncompaction Panel that also includes the following genes: RYR2 SCN5A TAZ TNNI3 TNNT2 TPM1 VCL ACTC1 LDB3 ACTN2

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR VCL CACNA1C ELAC2 ACTC1

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FUCA1 ALG3 LRAT COL2A1 NEXMIF ATP6V1A UNC93B1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more