Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Cpvt1

Description

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder of the heart characterized by a reproducible form of polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion, which can deteriorate into ventricular fibrillation. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. Typically, clinical cardiologic examinations, such as baseline ECG and echocardiogram, reveal mostly normal findings, and postmortem examinations, when carried out, have not disclosed any significant morphologic alterations in the fine structure of the heart, with the exception of mild fatty myocardial infiltration in a few patients. The hallmark of CPVT comprises ventricular arrhythmias of varying morphology not present under resting conditions but appearing only with physical exercise, excitement, or catecholamine administration. These arrhythmias are first seen as ventricular premature complexes, later in bigeminy, followed by bidirectional or polymorphic ventricular tachycardia, which eventually leads to ventricular fibrillation. CPVT can be inherited as an autosomal dominant or recessive trait. Clinical penetrance in this disease ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years. Beta-blockers without sympathomimetic activity are clinically effective in the reduction of syncope, but implantation of an automatic internal defibrillator is occasionally needed in these patients (summary by Bhuiyan et al., 2007). Genetic Heterogeneity of Catecholaminergic Polymorphic Ventricular TachycardiaCPVT2 (OMIM ) is caused by mutation in the CASQ2 gene (OMIM ) on chromosome 1p13; CPVT3 (OMIM ) has been mapped to chromosome 7p22-p14; CPVT4 (OMIM ) is caused by mutation in the CALM1 gene (OMIM ) on chromosome 14q32; and CPVT5 (OMIM ) is caused by mutation in the TRDN gene (OMIM ) on chromosome 6q22.

Clinical Features

Top most frequent phenotypes and symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Cpvt1

  • Seizures
  • Pica
  • Milia
  • Arrhythmia
  • Tachycardia
  • Vertigo
  • Sudden cardiac death
  • Syncope
  • Atrial fibrillation
  • Ventricular tachycardia
And another 4 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Cpvt1 have a estimated prevalence of 10 per 100k worldwide.


Mendelian

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Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Cpvt1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
13 %
Genes
86 %
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 35 more genes
Specificity
11 %
Genes
86 %
Cardiac channelopathy Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 21 more genes
Specificity
18 %
Genes
100 %
Cardiac channelopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 21 more genes
Specificity
18 %
Genes
100 %
Cardiac channelopathy NGS panel.

By Connective Tissue Gene Tests in United States.

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 21 more genes
Specificity
18 %
Genes
100 %
Catecholaminergic polymorphic ventricular tachycardia NGS panel.

By Connective Tissue Gene Tests in United States.

KCNJ2, ANK2, RYR2, CALM1, CALM2, TRDN, CASQ2, CALM3, TECRL
Specificity
78 %
Genes
100 %
Catecholaminergic polymorphic ventricular tachycardia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

KCNJ2, ANK2, RYR2, CALM1, CALM2, TRDN, CASQ2, CALM3, TECRL
Specificity
78 %
Genes
100 %
Catecholaminergic polymorphic ventricular tachycardia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

KCNJ2, ANK2, RYR2, CALM1, CALM2, TRDN, CASQ2, CALM3, TECRL
Specificity
78 %
Genes
100 %
Long QT syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B, NOS1AP, CALM3
Specificity
27 %
Genes
72 %
Long QT syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B, NOS1AP, CALM3
Specificity
27 %
Genes
72 %
Long QT syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B, NOS1AP, CALM3
Specificity
27 %
Genes
72 %
Long QT Syndrome Extended Panel.

By Health in Code in Spain.

CAVIN1, CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, KCNE3, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1 , (...)

View the complete list with 8 more genes
Specificity
18 %
Genes
72 %
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
8 %
Genes
86 %
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
2 %
Genes
86 %
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
3 %
Genes
86 %
Catecholaminergic polymorphic ventricular tachycardia panel.

By Health in Code in Spain.

KCNJ2, SCN5A, ANK2, RYR2, CALM1, CALM2, TRDN, CASQ2, CALM3
Specificity
67 %
Genes
86 %
Invitae Arrhythmia Comprehensive Panel.

By Invitae in United States.

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

View the complete list with 19 more genes
Specificity
16 %
Genes
86 %
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
9 %
Genes
86 %
Invitae Catecholaminergic Polymorphic Ventricular Tachycardia Panel.

By Invitae in United States.

KCNJ2, ANK2, RYR2, CALM1, CALM2, TRDN, CASQ2, CALM3
Specificity
75 %
Genes
86 %
Invitae Long QT Syndrome Panel.

By Invitae in United States.

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, CALM1, CALM2, TRDN, KCNE2, CALM3
Specificity
31 %
Genes
58 %
CALM3.

By Fulgent Genetics Fulgent Genetics in United States.

CALM3
Specificity
100 %
Genes
15 %
Long QT Syndrome (LQTS) Panel.

By Blueprint Genetics in Finland.

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, CALM1, CALM2, KCNE2, KCNJ5, AKAP9, NOS1AP, CALM3, TECRL
Specificity
25 %
Genes
58 %
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel.

By Blueprint Genetics in Finland.

KCNJ2, ANK2, RYR2, CALM1, CALM2, TRDN, CASQ2, CALM3, TECRL
Specificity
78 %
Genes
100 %
Arrhythmia Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 35 more genes
Specificity
13 %
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
4 %
Genes
100 %
Catecholaminergic Polymorphic Ventricular Tachycardia NGS and Deletion/Duplication Panel.

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

KCNJ2, RYR2, CALM1, TRDN, CASQ2, CALM3
Specificity
84 %
Genes
72 %
Long QT Syndrome NGS and Deletion/Duplication Panel.

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

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, RYR2, CALM1, TRDN, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B, CALM3
Specificity
24 %
Genes
58 %
CALM3 Gene Sequencing and Deletion/Duplication Analysis.

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

CALM3
Specificity
100 %
Genes
15 %
Phosphorus Pan Arrhythmia Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 22 more genes
Specificity
15 %
Genes
86 %
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
9 %
Genes
86 %
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
7 %
Genes
86 %
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
7 %
Genes
86 %
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
8 %
Genes
86 %
Phosphorus Catecholaminergic Polymorphic Ventricular Tachycardia Panel.

By Phosphorus Diagnostics LLC in United States.

KCNJ2, ANK2, RYR2, CALM1, CALM2, TRDN, CASQ2, CALM3
Specificity
75 %
Genes
86 %
Phosphorus Long QT Syndrome Panel.

By Phosphorus Diagnostics LLC in United States.

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, CALM1, CALM2, TRDN, KCNE2, SNTA1, SCN4B, CALM3
Specificity
27 %
Genes
58 %
TECRL.

By Fulgent Genetics Fulgent Genetics in United States.

TECRL
Specificity
100 %
Genes
15 %
Long QT Syndrome Panel.

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

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B
Specificity
28 %
Genes
72 %
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
5 %
Genes
72 %
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
6 %
Genes
43 %
Catecholaminergic polymorphic ventricular tachycardia - full panel.

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

RYR2, CASQ2
Specificity
100 %
Genes
29 %
Catecholaminergic polymorphic ventricular tachycardia - familial variant analysis.

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

RYR2, CASQ2
Specificity
100 %
Genes
29 %
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
5 %
Genes
29 %
Catecholaminergic Polymorphic Ventricular Tachycardia.

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

KCNJ2, ANK2, RYR2, CALM1, TRDN, CASQ2
Specificity
67 %
Genes
58 %
Comprehensive Arrhythmias Panel.

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

CAV3, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, SCN3B, KCNE3, CACNB2, GPD1L, ANK2, RYR2, CALM1, TRDN, KCNE2, SNTA1 , (...)

View the complete list with 3 more genes
Specificity
18 %
Genes
58 %
CASQ2 Sequencing.

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

CASQ2
Specificity
100 %
Genes
15 %
Cardiac Channelopathy Panel.

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

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 12 more genes
Specificity
13 %
Genes
58 %
Catecholminergic Polymorphic Ventricular Tachycardia (CPVT) Panel.

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

KCNJ2, ANK2, RYR2, CALM1, TRDN, CASQ2
Specificity
67 %
Genes
58 %
Catecholaminergic Polymoprhic Ventricular Tachycardia.

By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS in Italy.

RYR2, CALM1, TRDN, CASQ2
Specificity
100 %
Genes
58 %
Cardiac Arrhythmia Gene Panel.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

DSP, GLA, LMNA, MYH7, BAG3, MYBPC3, KCNJ2, KCNH2, SCN1B, SCN5A, KCNE1, KCNQ1, CACNA1C, CACNB2, PKP2, RYR2, KCNE2, CASQ2, KCNA5, TNNI3 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
29 %
CASQ2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CASQ2
Specificity
100 %
Genes
15 %
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
6 %
Genes
43 %
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
5 %
Genes
43 %
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
3 %
Genes
29 %
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel.

By GeneDx in United States.

KCNJ2, RYR2, CASQ2
Specificity
67 %
Genes
29 %
Comprehensive Arrhythmia Panel.

By GeneDx in United States.

DSP, CAV3, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
29 %
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
5 %
Genes
58 %
CPVTNext.

By Ambry Genetics in United States.

KCNJ2, ANK2, RYR2, CALM1, TRDN, CASQ2
Specificity
67 %
Genes
58 %
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
4 %
Genes
58 %
RhythmNext.

By Ambry Genetics in United States.

DSP, LMNA, CAV3, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 16 more genes
Specificity
12 %
Genes
58 %
RhythmFirst reflex RhythmNext.

By Ambry Genetics in United States.

DSP, LMNA, CAV3, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 16 more genes
Specificity
12 %
Genes
58 %
CASQ2 mutation analysis.

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

CASQ2
Specificity
100 %
Genes
15 %
CASQ2. Complete sequencing.

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

CASQ2
Specificity
100 %
Genes
15 %
Ventricular tachycardia, catecholaminergic polymorphic, 2 (sequence analysis of CASQ2 gene).

By CGC Genetics in Portugal.

CASQ2
Specificity
100 %
Genes
15 %
Cardiac conduction changes (NGS panel for 27 genes).

By CGC Genetics in Portugal.

CAV3, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, SCN3B, KCNE3, CACNB2, GPD1L, ANK2, RYR2, CALM1, TRDN, KCNE2, KCNJ5, SNTA1 , (...)

View the complete list with 7 more genes
Specificity
15 %
Genes
58 %
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
7 %
Genes
58 %
CASQ2-Related Catecholaminergic Polymorphic Ventricular Tachycardia.

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

CASQ2
Specificity
100 %
Genes
15 %
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
3 %
Genes
58 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 29 more genes
Specificity
7 %
Genes
43 %
Catecholaminergic Polymorphic Ventricular Tachycardia via the CASQ2 Gene.

By PreventionGenetics PreventionGenetics in United States.

CASQ2
Specificity
100 %
Genes
15 %
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

KCNJ2, SCN5A, KCNQ1, ANK2, RYR2, CALM1, TRDN, CASQ2
Specificity
50 %
Genes
58 %
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
4 %
Genes
72 %
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) / Arrhythmogenic Right Ventricular Dysplasia (ARVD).

By MGZ Medical Genetics Center in Germany.

SCN5A, CALM1, CASQ2
Specificity
67 %
Genes
29 %
Cardiac conduction abnormalities panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

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

View the complete list with 13 more genes
Specificity
7 %
Genes
29 %
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
4 %
Genes
29 %
Ventricular tachycardia, catecholaminergic polymorphic type 2.

By Centogene AG - the Rare Disease Company in Germany.

CASQ2
Specificity
100 %
Genes
15 %
Arrhythmia, familial panel.

By Centogene AG - the Rare Disease Company in Germany.

DSP, CAV3, TMEM43, KCNJ2, KCNH2, SCN1B, SCN5A, KCNE1, KCNQ1, CACNA1C, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2, SNTA1, CASQ2 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
29 %
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Paroxysmal/ Idiopathic Ventricular Fibrillation / Tachycardia Panel.

By CeGaT GmbH in Germany.

KCNJ2, SCN5A, ANK2, RYR2, CALM1, CALM2, TRDN, CASQ2, DPP6, GNAI2
Specificity
50 %
Genes
72 %
CASQ2-Related Catecholaminergic Polymorphic Ventricular Tachycardia.

By GGA - Galil Genetic Analysis in Israel.

CASQ2
Specificity
100 %
Genes
15 %
Cardio-channelopathy-gene-panel.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, ANK2, RYR2 , (...)

View the complete list with 13 more genes
Specificity
13 %
Genes
58 %
CASQ2.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

CASQ2
Specificity
100 %
Genes
15 %
Arrhythmia.

By Asper Biogene Asper Biogene LLC in Estonia.

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

View the complete list with 18 more genes
Specificity
6 %
Genes
29 %
Catecholaminergic Polymorphic Ventricular Tachycardia.

By Asper Biogene Asper Biogene LLC in Estonia.

KCNJ2, ANK2, RYR2, CALM1, TRDN, CASQ2
Specificity
67 %
Genes
58 %
CASQ2 gene sequencing.

By Health in Code in Spain.

CASQ2
Specificity
100 %
Genes
15 %
Left Ventricular Non-Compactation Panel.

By Health in Code in Spain.

DSP, DNAJC19, TAZ, MLYCD, DMD, PTPN11, LMNA, TTN, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, KCNH2, HCN4, KCNQ1, NOTCH1, RYR2, CASQ2 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
29 %
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
3 %
Genes
72 %
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
4 %
Genes
72 %
Catecholaminergic Polymorphic VT Panel.

By Health in Code in Spain.

KCNJ2, SCN5A, ANK2, RYR2, CALM1, CALM2, TRDN, CASQ2
Specificity
63 %
Genes
72 %
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
10 %
Genes
72 %
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
2 %
Genes
29 %
Arrythmogenic Cardiomyopathy Panel.

By Health in Code in Spain.

DSP, LMNA, TTN, DES, FLNC, LDB3, TMEM43, SCN5A, PKP2, RYR2, CASQ2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3
Specificity
12 %
Genes
29 %
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
3 %
Genes
29 %
Arrhythmogenic cardiomyopathy.

By Health in Code in Spain.

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

View the complete list with 1 more genes
Specificity
10 %
Genes
29 %
Non-compaction cardiomyopathy.

By Health in Code in Spain.

DSP, DNAJC19, TAZ, MLYCD, DMD, PTPN11, LMNA, TTN, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, KCNH2, HCN4, KCNQ1, NOTCH1, RYR2, CASQ2 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
29 %
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
2 %
Genes
29 %
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
2 %
Genes
29 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

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

View the complete list with 280 more genes
Specificity
1 %
Genes
29 %
Catecholinergic polymorphic ventricular tachycardia: CASQ2 gene sequence analysis.

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

CASQ2
Specificity
100 %
Genes
15 %
Catecholaminergic polymorphic ventricular tachycardia.

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

KCNJ2, RYR2, CALM1, TRDN, CASQ2
Specificity
80 %
Genes
58 %
Catecholaminergic Polymorphic Ventricular Tachycardia.

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

KCNJ2, SCN5A, ANK2, RYR2, CALM1, TRDN, CASQ2
Specificity
58 %
Genes
58 %
Arrhythmias: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DSP, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2 , (...)

View the complete list with 17 more genes
Specificity
11 %
Genes
58 %
Sudden Cardiac Arrest (SCA): Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, ANK2, RYR2, KCNE2, CASQ2
Specificity
20 %
Genes
29 %
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
4 %
Genes
58 %
Arrhythmias: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DSP, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2, KCNJ5 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
29 %
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
4 %
Genes
29 %
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
4 %
Genes
29 %
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
2 %
Genes
29 %
Familial Arrhythmia Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

DSP, CAV3, TMEM43, KCNJ2, KCNH2, SCN1B, SCN5A, KCNE1, KCNQ1, CACNA1C, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2, SNTA1, CASQ2, AKAP9, SCN4B , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
29 %
Arrhythmia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 18 more genes
Specificity
6 %
Genes
29 %
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
2 %
Genes
29 %
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
3 %
Genes
29 %
Catecholaminergic Polymorphic Ventricular Tachycardia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RYR2, CASQ2
Specificity
100 %
Genes
29 %
CASQ2.

By Fulgent Genetics Fulgent Genetics in United States.

CASQ2
Specificity
100 %
Genes
15 %
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
2 %
Genes
29 %
Catecholaminergic polymorphic ventricular tachycardia type 2.

By Bioarray in Spain.

CASQ2
Specificity
100 %
Genes
15 %
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
4 %
Genes
43 %
Arrhythmia Gene Set.

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

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, KCNE2 , (...)

View the complete list with 5 more genes
Specificity
12 %
Genes
43 %
Catecholaminergic Polymorphic Ventricular Tachycardia.

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

KCNJ2, ANK2, RYR2, CALM1, CASQ2
Specificity
60 %
Genes
43 %
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
4 %
Genes
29 %
Left Ventricular Noncompaction Gene Set.

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

TAZ, LMNA, MYH7, LDB3, MYBPC3, CASQ2, ACTC1, TNNT2, DTNA, VCL
Specificity
10 %
Genes
15 %
CASQ2 Gene Sequencing and Deletion/Duplication Analysis.

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

CASQ2
Specificity
100 %
Genes
15 %
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
4 %
Genes
43 %
Cardiac Arrhythmia Exome Panel.

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

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

View the complete list with 31 more genes
Specificity
10 %
Genes
72 %
Ventricular Tachycardia, Catecholaminergic Polymorphic Panel by NGS.

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

KCNJ2, ANK2, RYR2, CALM1, CALM2, TRDN, CASQ2
Specificity
72 %
Genes
72 %
CASQ2 Gene, entire coding region or targeted variant.

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

CASQ2
Specificity
100 %
Genes
15 %
Channelopathies.

By Cardiovascular Genetics PO San Francesco-NUORO (IT) in Italy.

KCNH2, SCN5A, RYR2, CASQ2, KCNQ1-AS1
Specificity
40 %
Genes
29 %
BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2 , (...)

View the complete list with 5 more genes
Specificity
20 %
Genes
72 %
CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA.

By Laboratorio de Genetica Clinica SL in Spain.

RYR2, CASQ2
Specificity
100 %
Genes
29 %
Catecholaminergic Polymorphic Ventricular Tachycardia , Sequencing CASQ2 Gene.

By Reference Laboratory Genetics in Spain.

CASQ2
Specificity
100 %
Genes
15 %
Catecholaminergic Polymorphic Ventricular Tachycardia , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

DNAJC19, TAZ, LMNA, MYH7, LDB3, MYBPC3, HCN4, RYR2, CASQ2, ACTC1, TPM1, TNNT2, DTNA, VCL
Specificity
15 %
Genes
29 %
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
9 %
Genes
58 %
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
5 %
Genes
58 %
TRDN.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TRDN
Specificity
100 %
Genes
15 %
Catecholaminergic Polymorphic Ventricular Tachycardia via the TRDN Gene.

By PreventionGenetics PreventionGenetics in United States.

TRDN
Specificity
100 %
Genes
15 %
Malformations of Cortical Development.

By MGZ Medical Genetics Center in Germany.

DSP, FGFR3, DES, TMEM43, EFHC1, PKP2, RYR2, TRDN, TGFB3, DSG2, JUP, DSC2
Specificity
17 %
Genes
29 %
Ventricular tachycardia, catecholaminergic polymorphic type 5.

By Centogene AG - the Rare Disease Company in Germany.

TRDN
Specificity
100 %
Genes
15 %
TRDN.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

TRDN
Specificity
100 %
Genes
15 %
LONG QT SYNDROME.

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

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, RYR2, CALM1, TRDN, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B, KCNA5 , (...)

View the complete list with 3 more genes
Specificity
14 %
Genes
43 %
TRDN.

By Fulgent Genetics Fulgent Genetics in United States.

TRDN
Specificity
100 %
Genes
15 %
TRDN Gene Sequencing and Deletion/Duplication Analysis.

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

TRDN
Specificity
100 %
Genes
15 %
TRDN Gene, entire coding region or targeted variant.

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

TRDN
Specificity
100 %
Genes
15 %
Long QT Syndrome and Short QT Syndrome.

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

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, CALM1, KCNE2, SNTA1, AKAP9, SCN4B
Specificity
8 %
Genes
15 %
Long QT Syndrome Panel.

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

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, CALM1, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B
Specificity
8 %
Genes
15 %
LQTS panel.

By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS in Italy.

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, CALM1, CALM2, KCNE2, AKAP9, SCN4B
Specificity
16 %
Genes
29 %
CALM1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CALM1
Specificity
100 %
Genes
15 %
CALM1 mutation analysis.

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

CALM1
Specificity
100 %
Genes
15 %
Ventricular tachycardia, catecholaminergic polymorphic 4 (sequence analysis of CALM1 gene).

By CGC Genetics in Portugal.

CALM1
Specificity
100 %
Genes
15 %
Long QT Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, CALM1, CALM2, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B
Specificity
14 %
Genes
29 %
Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome via CALM1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CALM1
Specificity
100 %
Genes
15 %
Ventricular tachycardia, catecholaminergic polymorphic type 4.

By Centogene AG - the Rare Disease Company in Germany.

CALM1
Specificity
100 %
Genes
15 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
15 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
15 %
Long QT Syndrome Panel.

By CeGaT GmbH in Germany.

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, CALM1, CALM2, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B
Specificity
14 %
Genes
29 %
CALM1.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

CALM1
Specificity
100 %
Genes
15 %
Long QT Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, CALM1, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B
Specificity
8 %
Genes
15 %
Long QT Syndrome Extended Panel.

By Health in Code in Spain.

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, KCNE3, ANK2, RYR2, CALM1, CALM2, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B , (...)

View the complete list with 3 more genes
Specificity
14 %
Genes
43 %
CALM1.

By Fulgent Genetics Fulgent Genetics in United States.

CALM1
Specificity
100 %
Genes
15 %
CALM1 Gene Sequencing and Deletion/Duplication Analysis.

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

CALM1
Specificity
100 %
Genes
15 %
Long QT Syndrome Panel by NGS.

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

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, CALM1, CALM2, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B
Specificity
14 %
Genes
29 %
Ventricular Fibrillation, Familial Panel by NGS.

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

CAV3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, ANK2, CALM1, CALM2, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B
Specificity
14 %
Genes
29 %
CALM1 Gene, entire coding region or targeted variant.

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

CALM1
Specificity
100 %
Genes
15 %
Long QT Syndrome: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CAV3, KCNJ2, KCNE1, CACNA1C, ANK2, CALM1, CALM2, KCNE2, KCNJ5, SNTA1, AKAP9, SCN4B
Specificity
17 %
Genes
29 %
CALM2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CALM2
Specificity
100 %
Genes
15 %
Long QT Syndrome via the CALM2 Gene.

By PreventionGenetics PreventionGenetics in United States.

CALM2
Specificity
100 %
Genes
15 %
Ventricular tachycardia, catecholaminergic polymorphic type 3.

By Centogene AG - the Rare Disease Company in Germany.

CALM2
Specificity
100 %
Genes
15 %
CALM2.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

CALM2
Specificity
100 %
Genes
15 %
CALM2.

By Fulgent Genetics Fulgent Genetics in United States.

CALM2
Specificity
100 %
Genes
15 %
CALM2 Gene, entire coding region or targeted variant.

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

CALM2
Specificity
100 %
Genes
15 %
Arrhythmogenic right ventricular cardiomyopathy - full panel.

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

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
15 %
Arrhythmogenic right ventricular cardiomyopathy - familial variant analysis.

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

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
15 %
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
15 %
Arrhythmogenic Right Ventricular Cardiomyopathy.

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

DSP, LMNA, TTN, MYH7, MYBPC3, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
9 %
Genes
15 %
Comprehensive Neuromuscular Panel.

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

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

View the complete list with 59 more genes
Specificity
2 %
Genes
15 %
Arrhymogenic Right Ventricular Cardiomyopathy Panel.

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

DSP, LMNA, TTN, DES, LDB3, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2
Specificity
8 %
Genes
15 %
ARVC panel.

By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS in Italy.

DSP, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
17 %
Genes
15 %
RYR2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

RYR2
Specificity
100 %
Genes
15 %
Arrhythmogenic Right Ventricular Cardiomyopathy Sequencing Panel.

By GeneDx in United States.

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
15 %
Arrhythmogenic Right Ventricular Cardiomyopathy Del/Dup Panel.

By GeneDx in United States.

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
15 %
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
15 %
ARVCNext.

By Ambry Genetics in United States.

DSP, LMNA, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
12 %
Genes
15 %
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
15 %
RYR2 mutation analysis.

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

RYR2
Specificity
100 %
Genes
15 %
RYR2. Sequencing of the 30 "hot spot" exons.

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

RYR2
Specificity
100 %
Genes
15 %
DSC2, DSG2, DSP, JUP, PKP2, RYR2 (30 exones), TGFB3. NextGeneDx.Complete sequencing by NGS.

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

DSP, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
15 %
Genes
15 %
RYR2. Sequencing of the 30 \\\\.

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

RYR2
Specificity
100 %
Genes
15 %
RYR2. Complete sequencing.

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

RYR2
Specificity
100 %
Genes
15 %
PKP2, DSP, DSG2, DSC2, JUP, TGFB3, RYR2. (30 exones) NextGeneDx.Complete Sequencing by NGS.

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

DSP, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
15 %
Genes
15 %
Arrhythmogenic right ventricular dysplasia (ARVD, NGS panel for 7 genes).

By CGC Genetics in Portugal.

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
15 %
Arrhythmogenic right ventricular dysplasia 2 (ARVD, sequence analysis of RYR2 gene).

By CGC Genetics in Portugal.

RYR2
Specificity
100 %
Genes
15 %
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
15 %
Ventricular tachycardia, catecholaminergic polymorphic 1 (sequence analysis of RYR2 gene).

By CGC Genetics in Portugal.

RYR2
Specificity
100 %
Genes
15 %
Arrhythmogenic right ventricular dysplasia - dominat (ARVD, deletion/duplication analysis of PKP2, DSP, JUP, DSC2, DSG2, TGFB3, RYR2 genes).

By CGC Genetics in Portugal.

DSP, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
15 %
Genes
15 %
Arrhythmogenic right ventricular dysplasia - dominat (ARVD, deletion/duplication analysis of PKP2, DSP, JUP, DSC2, DSG2, TGFB3, RYR2 genes).

By CGC Genetics in Portugal.

DSP, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
15 %
Genes
15 %
Ventricular tachycardia, catecholaminergic polymorphic 1 (sequence analysis of RYR2 gene).

By CGC Genetics in Portugal.

RYR2
Specificity
100 %
Genes
15 %
ARVD/C2.

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

RYR2
Specificity
100 %
Genes
15 %
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DSP, DES, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
12 %
Genes
15 %
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
15 %
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
15 %
Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene.

By PreventionGenetics PreventionGenetics in United States.

RYR2
Specificity
100 %
Genes
15 %
Long QT Syndrome (LQTS).

By MGZ Medical Genetics Center in Germany.

CAV3, KCNH2, KCNE1, KCNQ1, RYR2, KCNE2
Specificity
17 %
Genes
15 %
ARVC Panel.

By FirmaLab in United States.

DSP, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
13 %
Genes
15 %
Ventricular tachycardia, catecholaminergic polymorphic type 1.

By Centogene AG - the Rare Disease Company in Germany.

RYR2
Specificity
100 %
Genes
15 %
Arrhythmogenic right ventricular cardiomyopathy panel.

By Centogene AG - the Rare Disease Company in Germany.

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
15 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Panel.

By CeGaT GmbH in Germany.

DSP, LMNA, TTN, DES, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3
Specificity
8 %
Genes
15 %
Cathecolaminergic polymorphic venticular tachycardia, RYR2.

By GGA - Galil Genetic Analysis in Israel.

RYR2
Specificity
100 %
Genes
15 %
Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

DSP, LMNA, TTN, DES, LDB3, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3
Specificity
8 %
Genes
15 %
RYR2 gene sequencing.

By Health in Code in Spain.

RYR2
Specificity
100 %
Genes
15 %
Auricular Fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2, KCNE2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
15 %
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
15 %
Long QT Syndrome Short Panel.

By Health in Code in Spain.

KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, RYR2, KCNE2
Specificity
13 %
Genes
15 %
Long QT Syndrome Panel.

By Health in Code in Spain.

KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, RYR2, KCNE2
Specificity
13 %
Genes
15 %
Atrial fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, ZFHX3, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
15 %
Invitae Arrhythmogenic Cardiomyopathy Panel.

By Invitae in United States.

DSP, LMNA, TTN, DES, FLNC, TMEM43, EMD, SCN5A, PKP2, RYR2, TNNI3, PRKAG2, PLN, DSG2, JUP, TNNT2, RBM20, ACTN2, DSC2
Specificity
6 %
Genes
15 %
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
15 %
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
15 %
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
15 %
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
15 %
Catecholinergic polymorphic ventricular tachycardia: RYR2 gene sequence (select exons).

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

RYR2
Specificity
100 %
Genes
15 %
Catecholaminergic polymorphic ventricular tachycardia: RYR2 gene sequence analysis.

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

RYR2
Specificity
100 %
Genes
15 %
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
15 %
CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR (ARVC).

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

DSP, TTN, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
12 %
Genes
15 %
RYR2-Related Disorders: RYR2 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RYR2
Specificity
100 %
Genes
15 %
RYR2-Related Disorders: RYR2 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RYR2
Specificity
100 %
Genes
15 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2, CTNNA3
Specificity
13 %
Genes
15 %
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 26 more genes
Specificity
3 %
Genes
15 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 58 more genes
Specificity
2 %
Genes
15 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
15 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 57 more genes
Specificity
2 %
Genes
15 %
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
15 %
Atrial Fibrillation NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

LMNA, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, RYR2, KCNE2, KCNJ5, SCN4B, KCNA5, GATA4, GATA6 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
15 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 30 more genes
Specificity
2 %
Genes
15 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
15 %
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
15 %
RYR2.

By Fulgent Genetics Fulgent Genetics in United States.

RYR2
Specificity
100 %
Genes
15 %
Atrial Fibrillation Panel.

By Blueprint Genetics in Finland.

LMNA, LDB3, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, SCN3B, CACNB2, RYR2, KCNE2, KCNJ5, KCNA5, TBX5, GATA6, NUP155, SCN10A
Specificity
6 %
Genes
15 %
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
15 %
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel.

By Blueprint Genetics in Finland.

DSP, LMNA, TTN, DES, MYH7, FLNC, LDB3, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3, CDH2
Specificity
6 %
Genes
15 %
Familial isolated arrhythmogenic right ventricular dysplasia type 2.

By Bioarray in Spain.

RYR2
Specificity
100 %
Genes
15 %
Catecholaminergic polymorphic ventricular tachycardia type 1.

By Bioarray in Spain.

RYR2
Specificity
100 %
Genes
15 %
Arrhythmogenic Right Ventricular Cardiomyopathy.

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

DSP, DES, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
13 %
Genes
15 %
Arrhythmogenic Right Ventricular Cardiomyopathy Panel.

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

DSP, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2, CTNNA3
Specificity
12 %
Genes
15 %
RYR2 Gene Sequencing and Deletion/Duplication Analysis.

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

RYR2
Specificity
100 %
Genes
15 %
iGene Cardiac Panel.

By ApolloGen, Inc. in United States.

COL3A1, DSP, GLA, LDLR, LMNA, TTN, MYH7, MYBPC3, KCNH2, SCN5A, KCNQ1, PKP2, RYR2, ACTC1, TNNI3, PRKAG2, DSG2, TPM1, TNNT2, MYL3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
15 %
RYR2 Gene, entire coding region or targeted variant.

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

RYR2
Specificity
100 %
Genes
15 %
Arrhythmogenic Right Ventricular Cardiomyopathy Panel by NGS.

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

DSP, LMNA, TTN, DES, TMEM43, SCN5A, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2
Specificity
8 %
Genes
15 %
FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

DSP, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
13 %
Genes
15 %
FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

DSP, DES, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2, CTNNA3
Specificity
10 %
Genes
15 %
Catecholaminergic Polymorphic Ventricular Tachycardia , Sequencing RYR2 Gene.

By Reference Laboratory Genetics in Spain.

RYR2
Specificity
100 %
Genes
15 %
Catecholaminergic Polymorphic Ventricular Tachycardia , Sequencing Selected Exons RYR2 Gene.

By Reference Laboratory Genetics in Spain.

RYR2
Specificity
100 %
Genes
15 %
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
15 %
Arrhythmogenic Right Ventricle Dysplasia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

DSP, TTN, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
12 %
Genes
15 %
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
15 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Panel (ARVD/ARVC Panel).

By Labor Dr. Wisplinghoff in Germany.

DSP, LMNA, TTN, DES, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
10 %
Genes
15 %
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
15 %
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
15 %
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
15 %
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
15 %
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
15 %
Phosphorus Arrhythmogenic Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

DSP, LMNA, TTN, DES, LDB3, TMEM43, EMD, SCN5A, PKP2, RYR2, TGFB3, TNNI3, PRKAG2, PLN, DSG2, JUP, TNNT2, RBM20, ACTN2, DSC2
Specificity
5 %
Genes
15 %
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
15 %
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
15 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
15 %

Alternate names

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Cpvt1 Is also known as ventricular tachycardia, stress-induced polymorphic;vtsip;bidirectional tachycardia induced by catecholamine; cpvt; double tachycardia induced by catecholamines; malignant paroxysmal ventricular tachycardia; multifocal ventricular premature beats.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS ATRIAL STANDSTILL 1; ATRST1 METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE POLYGLUCOSAN BODY MYOPATHY 2; PGBM2

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