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NGS Panels for Genetic Testing of Cardiovascular Disorders 


General Genetic Testing | Cardiology Genetics | Epilepsy Genetics | Hematology | Mental Health & Neurogenetics | Metabolism | Mitochondrial Genetics | Muscle Genetics | Ophthalmics | Reprogenetics |Respiratory System | More Genetic Disorder Testing


Cardiovascular diseases are the leading causes of death globally (Mendis et al. 2011). The diseases are divided into different classes affecting the heart and the blood vassals.

Some major known diseases are arrhythmogenic right ventricular dysplasia (ARVD), brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), cardio-facio-cutaneous syndrome,dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular non-compaction (LVNC), long QT syndrome (LQTS), myocardial infarction, and restrictive cardiomyopathy.

Common known risk factors are alcohol consumption, diabetes, high blood pressure and high blood cholesterol, lack of exercise, poor diet and obesity. Some of these factors are associated with specific genetic markers (predispositions). 

Genes that are described to be associated with elevated risk for developing certain cardiovascular diseases are for example the ANGPTL3, BAG, CUL3, KCNJ5, KLHL3 and NT5E (Kathiresan and Srivastava 2012). Single gene disorders that are associated with certain cardiovascular diseases include for example the ABCC9, BAG3, GATA, D1, MAX, MRPL3, MYH6, SMAD3 and TTN genes (Roberts et al. 2013). 

On this website a number of different NGS gene panels are introduced targeting genes that are associated with elevated risk to develop certain cardiovascular diseases. Some panels only target specific syndromes or diseases whereas others target multiple diseases, respectively classes of cardiovascular diseases. 

For more general information on  cardiovascular diseases we refer to the American Heart Association website.


Cardiology NGS Panels (see also Hematology)

Aortopathy Sequencing

Acceptable panel for individuals with clinical phenotype of aortic/vascular aneurysm, dissection, or rupture.Genes tested: ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, MYH11, MYLK, PLOD1, PLOD3, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
Source: Arup Laboratories

ARVDNEXT

ARVDNext is a targeted panel for patients with arrhythmogenic right ventricular dysplasia (ARVD).
ARVDNext is a next generation sequencing (NGS) and deletion/duplication panel of nine genes associated with ARVD: DSC2, DSG2, DSP, JUP, LMNA, PKP2, RYR2, TGFB3, TMEM43. These genes are also included in the comprehensive inherited cardiomyopathy (CMNext), inherited arrhythmia (RhythmNext) and cardiovascular genetics (CardioNext) panels.
Source:Ambry Genetics

Arrhythmia Gene Set

Includes all genes from the following four gene sets
Brugada Syndrome (BrS) Gene Set
CACNA1C, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNJ8, PKP2, SCN1B, SCN3B, SCN5A
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Gene Set
ANK2, CALM1, CASQ2, KCNJ2, RYR2
Long QT Syndrome (LQTS) Gene Set
AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1
Short QT Syndrome (SQTS)
CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1
Source: WUSTL

Arrhythmia, hereditary panel

Targeted genes: AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, NPPA, PKP2, PLN, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43

Source: Centogene

Arrhythmia NGS Panel

Targeted Genes: AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, CPT1A, DES, DSC2, DSG2, DSP, GJA5, GPD1L, GYG1, HCN4, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LDB3, LMNA, NPPA, PKP2, PRKAG2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SLC25A20, SNTA1, TGFB3, TMEM43
Source: Fulgent Diagnostics

Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel

Targeted Genes: AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, NKX2-5, PKP2, RANGRF, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43
Source: Fulgent Diagnostics

Arrhythmogenic right ventricular cardiomyopathy panel

Targeted genes: DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3, TMEM43

Source: Centogene

Arrhythmogenic right ventricular dysplasia (ARVD)

Targeted genes: DSC2, DSG2, DSP, JUP, PKP2, RYR2, TMEM43

Source: CGC Genetics

Atrial Fibrillation NGS Panel

Targeted Genes: ABCC9, GATA4, GATA6, GJA5, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, NPPA, NUP155, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A
Source: Fulgent Diagnostics

Asper Cardiogenetics

Asper Cardiogenetics covers genetic tests related to cardiovascular diseases, including Long QT syndrome, Marfan syndrome, Noonan syndrome, as well as tests for prediction of adverse drug reactions.
Source: Asper Biotech

Website

Brugada syndrome

Targeted genes: GPD1L, SCN5A, CACNB2, KCNE3, SCN3B, CACNA1C, SCN1B

Source: CGC Genetics

Brugada Syndrome (BrS) Gene Set

Targeted genes: CACNA1C, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNJ8, PKP2, SCN1B, SCN3B, SCN5A
Source: WUSTL

Brugada Syndrome NGS Panel

Targeted Genes: CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A
Source: Fulgent Diagnostics

Brugada syndrome panel

Targeted genes: CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, SLMAP

Source: Centogene

Cardiac conduction changes (NGS panel)

Targeted genes (27): AKAP9, ALG10, ANK2, CACNA1C, CACNB2, CALM1, CASQ2, CAV3, GPD1L, HCN4, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, MYH6, PRKAG2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1,TNNI3K,TRDN

Source. CGC Genetics

Cardiac Healthy Weight DNA InsightTM

Cardiac Healthy Weight DNA InsightTM can help physicians and patients understand how genetics and lifestyle affect diet, nutrition, weight and overall heart health. Clinical studies have shown that individuals who follow a genetically appropriate diet lose significantly more weight and are able to maintain weight loss more easily than those on a diet not based on their genetics.
Source: Pathway

Website

Cardiac DNA InsightTM

Cardiac DNA InsightTM can help identify a patient’s propensity for increased risk of certain heart-related health conditions. This report also examines eight classes of drugs that affect the cardiovascular system: anti-platelets, anti-coagulants, statins, stimulants, beta-blockers, ACE inhibitors, calcium channel blockers and hormone therapies. Cardiac DNA Insight may be used to enhance the information provided in lipid tests that evaluate risk for cardiovascular disease.
Source: Pathway

Website

Cardio-Facio-Cutaneous Syndrome NGS Panel

Targeted Genes: BRAF, KRAS, MAP2K1, MAP2K2, SOS1
Source: Fulgent Diagnostics

Cardio Incode

Identifies true lifetime risk for cardiovascular-related events
For more information please visit the Selah Genomics website.

Cardiomyopathy and Arrhythmia Panel

Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes)
Source: Arup Laboratories

Cardiomyopathy and changes in cardiac conduction (NGS panel)

Targeted genes (59): ABCC9, ACTC1, ACTN2, AKAP9, ALG10, ANK2, CACNA1C, CACNB2, CALM1, CASQ2, CAV3, CSRP3, DES, DSC2, DSG2, DSP, GLA, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TCAP, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TTN, VCL

Source: CGC Genetics

Cardiomyopathies, Comprehensive Diagnostics

Multi Gene Panel (81 Genes)
Targeted genes: AARS2 ACAD9 ACADM ACADS ACADVL ACTA1 AGK AGL BAG3 CAV3 CHKB COX15 CPT1A CPT2 CRYAB DES DMD DSC2 DSG2 DSP EMD ETFA ETFB ETFDH FHL1 FKRP FKTN FLNC GAA GBE1 GFM1 GLA GNE JUP LAMP2 LARGE LDB3 LMNA MTO1 MYBPC1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYOT PKP2 PLEC PNPLA2 POMGNT1 POMT1 POMT2 PRKAG2 RAF1 RBM20 RYR2 SCN5A SCO2 SDHA SEPN1 SGCA SGCB SGCD SGCG SLC22A5 SLC25A20 SLC25A3 SYNE1 SYNE2 TAZ TCAP TGFB3 TMEM43 TMEM70 TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCP
Source: Medical Genetics Center

Cardiomyopathy, Dilated

Multi Gene Panel (28 Genes)
Targeted genes: BAG3 CAV3 DES DSC2 DSG2 DSP JUP LAMP2 LDB3 LMNA MYBPC3 MYH6 MYH7 PKP2 RAF1 RBM20 RYR2 SCN5A SLC22A5 TAZ TCAP TGFB3 TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TTN
Source: Medical Genetics Center

Cardiomyopathy dilated panel

Targeted genes: ABCC9, ACTC1, ACTN2, BAG3, CSRP3, DES, DMD, DSG2, EYA4, FKTN, GATAD1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, PSEN1, MT-ND1, MT-ND5, MT-ND6, MT-TD, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Source: Centogene

Cardiomyopathy Gene Set

Includes all genes from the following four gene sets
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Gene Set
DES, DSC2, DSG2, DSP, JUP, PKP2, RYR2, TMEM43
Dilated Cardiomyopathy (DCM) Gene Set
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CTF1, DES, EMD, FHL1, FHL2, GATAD1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
Hypertrophic Cardiomyopathy (HCM) Gene Set
ACTC1, ACTN2, BRAF, CSRP3, GLA, HRAS, KRAS, LAMP2, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, NRAS, PLN, PRKAG2, PTPN11, RAF1, RIT1, SHOC2, SOS1, TNNC1, TNNI3, TNNT2, TPM1, TTR
Left Ventricular Noncompaction (LVNC) Gene Set
ACTC1, CASQ2, DTNA, LDB3, LMNA, MYBPC3, MYH7, TAZ, TNNT2, VCL
Source: WUSTL

Cardiomyopathy, Hypertrophic

Multi Gene Panel (18 Genes)
Targeted genes: AGK COX15 GLA LAMP2 MYBPC3 MYH6 MYH7 MYL2 MYL3 PRKAG2 SLC25A20 SLC25A3 TMEM70 TNNC1 TNNI3 TNNT2 TPM1 TTR
Source: Medical Genetics Center

Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel)

Targeted genes (36): ABCC9, ACTC1, ACTN2, CAV3, CSRP3, DES, DSC2, DSG2, DSP, GLA, JUP, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PKP2, PLN, PRKAG2, RBM20, RYR2, SGCD, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL

Source: CGC Genetics

Cardiomyopathy hypertrophic panel

Targeted genes: ACTC1, CALR3, CAV3, CSRP3, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2, SLC25A4, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Source: Centogene

Cardiomyopathy Panel

Targeted genes: ABCC9 , ACTC (ACTC1), ACTN2, ANKRD1, BAG3, BRAF, CAV3, CRYAB , CSRP3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GATAD1, GLA, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3 (ZASP), LMNA, MAP2K1, MAP2K2, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL , NEXN, NRAS, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, SOS1, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Disorders:
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Dilated Cardiomyopathy (DCM)
Hypertrophic Cardiomyopathy (HCM)
Left Ventricular Noncompaction (LVNC)
Noonan Syndrome

Source: GeneDx

Cardiomyopathy Panel

Next generation sequencing using Illumina NextSeq 500 technology of the 112 cardiomyopathy-associated genes:
ABCC9, ACTA2, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNB2, CAV3, CBL, CBS, COL3A1, COL5A1, COL5A2, COX15, CRYAB, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FBN2, FKTN, FLNA, FXN, GAA, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MED12, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NOTCH1, NRAS, OBSCN, PDLIM3, PKP2, PLN, PLOD1, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SCO2, SGCD, SHOC2, SKI, SLC2A10, SMAD3, SNTA1, SOS1, SPRED1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, TXNRD2, VCL
Source: Knight Diagnostic Laboratories

CARDIONEXT

CardioNext is a next generation sequencing (NGS) and deletion/duplication panel of 85 genes associated with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular dysplasia (ARVD), left ventricular non-compaction (LVNC), restrictive cardiomyopathy, long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT syndrome. This panel also includes genes that cause cardiomyopathy that is associated with inherited muscular dystrophies, as well as some genes associated with congenital heart defects.
Source: Ambry Genetics

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) / Arrhythmogenic Right Ventricular Dysplasia (ARVD)

Multi Gene Panel (12 Genes)
Targeted genes: CALM1 CASQ2 DES DSC2 DSG2 DSP JUP PKP2 RYR2 TGFB3 TMEM43 TRDN
Source: Medical Genetics Center

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Gene Set

Targeted genes: ANK2, CALM1, CASQ2, KCNJ2, RYR2
Source: WUSTL

Catecholaminergic Polymorphic Ventricular Tachycardia NGS Panel

Targeted Genes: ANK2, CALM1, CASQ2, KCNJ2, RYR2, TRDN
Source: Fulgent Diagnostics

Catecholaminergic polymorphic ventricular tachycardia panel

Targeted genes: RYR2, CASQ2, KCNJ2

Source: Centogene

CMNEXT

CMNext is a next generation sequencing (NGS) and deletion/duplication panel including 55 genes associated with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular dysplasia (ARVD), left ventricular non-compaction (LVNC), and/or restrictive cardiomyopathy. This panel also includes genes that can cause cardiomyopathy associated with inherited muscular dystrophies.

Genes included in CMNext are: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GATAD1, GLA, JPH2, JUP, LAMA4, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, NKX2.5, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTR, TXNRD2, and VCL.
Source: Ambry Genetics

Combined Cardiac Panel

Targeted genes: ABCC9 , ACTC (ACTC1), ACTN2, AKAP9, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNB2, CASQ2, CAV3, CRYAB , CSRP3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3 (ZASP), LMNA, MAP2K1, MAP2K2, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL , NEXN, NKX2.5 , NRAS, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, SOS1, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Disorders:
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Brugada Syndrome (BrS)
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Dilated Cardiomyopathy (DCM)
Hypertrophic Cardiomyopathy (HCM)
Left Ventricular Noncompaction (LVNC)
Long QT Syndrome (LQTS)
Noonan Syndrome
Short QT Syndrome (SQTS)
Sudden Cardiac Arrest

Source: GeneDx

Comprehensive Cardiomyopathy Panel

ApolloGen’s cardiomyopathy panel detects target genes associated with inherited cardiomyopathies, including Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Restrictive Cardiomyopathy (RCM), Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), and Left Ventricular Non-Compaction (LVNC). The causal genes for Danon Syndrome, Fabry disease, Barth Syndrome, and Transthyretin Amyloidosis are also included in this panel.
Targeted Genes: ABCC9, ACTC1, ACTN2, BMPR2, CAV3, DES, GLA, LAMA4, LAMP2, LDB3, LMNA, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, PLN, PRKAG2, PSEN1, PSEN2, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL
Source: ApolloGen

CPVT Sequencing Panel

Targeted genes: CASQ2, KCNJ2, RYR2

Source: GeneDx

DCM/LVNC Sequencing Panel

Targeted genes: ACTC (ACTC1), ACTN2, ANKRD1, CSRP3, DES, EMD, LAMP2, LDB3 (ZASP), LMNA, MTND1, MTND5, MTND6, MTTD, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH7, NEXN, PLN, RBM20, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Disorders:
Danon Disease
Dilated Cardiomyopathy (DCM)
Left Ventricular Noncompaction (LVNC)
Transthyretin Amyloidosis

Source: GeneDx

DCMNEXT

DCMNext is a targeted panel for patients with dilated cardiomyopathy (DCM).
DCMNext is a next generation sequencing (NGS) and deletion/duplication panel of 36 genes associated with DCM: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, DES, DMD, EYA4, FKTN, LAMA4, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, NKX2.5, PLN, RAF1, RBM20, SCN5A, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2 and VCL.
Source: Ambry Genetics

Dilated cardiomyopathy

Targeted genes: ABCC9, ACTC1, ACTN2, CSRP3, DES, DSG2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, RBM20, SGCD, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL

Source: CGC Genetics

Dilated Cardiomyopathy (DCM) Gene Set

Targeted genes: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CTF1, DES, EMD, FHL1, FHL2, GATAD1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
Source: WUSTL

Dilated Cardiomyopathy NGS Panel

Targeted Genes: (32) ABCC9, ACTC1, ACTN2, ANKRD1, CAV3, CRYAB, CSRP3, DES, DSC2, DSG2, DSP, EMD, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PKP2, PLN, RBM20, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
Source: Fulgent Diagnostics

Dilated Cardiomyopathy Panel

Hereditary dilated cardiomyopathy (DCM) may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the gene involved. In DCM patients, the left ventricle becomes enlarged, or dilated, and therefore unable to pump with as much force as an unaffected heart can. Typically, DCM presents with one of three features: heart failure, thromboembolic disease, or arrhythmias and/or conduction system disease.
Targeted genes: ABCC9, ACTC1, ACTN2, DES, LAMA4, LDB3, LMNA, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, MYBPC3,MYH6, MYH7, MYPN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNI3, TNNT2, TPM1, VCL
Source: ApolloGen

HCMFIRST AND HCMNEXT

HCMFirst is a panel including the two genes most commonly associated with HCM: MYBPC3 and MYH7. These genes are implicated in over 80% of known genetic causes of HCM, so HCMFirst is an excellent first-tier testing option. HCMNext is a panel including 27 genes associated with HCM: ACTC1, ACTN2, ANKRD1, CSRP3, FXN, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PTPN11, RAF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR and VCL. These genes are also included in the comprehensive inherited cardiomyopathy (CMNext) and cardiovascular genetics (CardioNext) panels.
Source: Ambry Genetics

HCM MASTR assay

A ready to use molecular assay for early detection of mutations in HCM related genes by massively parallel sequencing.
The HCM MASTR assay amplifies the entire coding regions of MYBPC3, MYH7, TNNI3, TNNT2, and MYL2 genes. The assay contains 131 amplicons (280-430 bp) including control amplicons for evaluation of copy number variations in 5 multiplex PCR reactions.
Source: Mulitplicom

Website

HCM Sequencing Panel

Targeted genes: ACTC (ACTC1), CAV3, GLA, LAMP2, MTTG, MTTI, MTTK, MTTQ, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TTR

Disorders:
Danon Disease
Fabry Disease
Hypertrophic Cardiomyopathy (HCM)
Transthyretin Amyloidosis
Wolff-Parkinson-White Syndrome

Source: GeneDx

Hemiplegia/Stroke NGS Panel

Targeted Genes: ATP1A2, ATP1A3, CACNA1A, COL4A1, COL4A2, NOTCH3, OTC, POLG, SCN1A, SLC2A1
Source: Fulgent Diagnostics

Human Cardiomyopathy Panel

he Human Cardiomyopathy GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of 58 genes mutated in hereditary cardiomyopathy. The two major forms of primary cardiomyopathy are hypertrophic and dilated. Hypertrophic cardiomyopathy commonly presents with left ventricular hypertrophy, often due to high blood pressure during the diastolic (resting) phase of the heartbeat. Dilated cardiomyopathy commonly presents with dilated ventricles, often due to increased systolic blood pressure. There is a significant genetic component to both of these forms of cardiomyopathy, including 50% of hypertrophic patients and 20–35% of dilated cardiomyopathy patients.
Source: Qiagen

Hypertrophic cardiomyopathy (HCM)

Targeted genes: ACTC1, CAV3, CSRP3, GLA, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL

Source: CGC Genetics

Hypertrophic Cardiomyopathy (HCM) Gene Set

Targeted genes: ACTC1, ACTN2, BRAF, CSRP3, GLA, HRAS, KRAS, LAMP2, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, NRAS, PLN, PRKAG2, PTPN11, RAF1, RIT1, SHOC2, SOS1, TNNC1, TNNI3, TNNT2, TPM1, TTR
Source: WUSTL

Hypertrophic Cardiomyopathy NGS Panel

Targeted Genes: (63) ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, BRAF, CAV3, CRYAB, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GATAD1, GLA, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MYBPC3, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NRAS, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, SOS1, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
Source: Fulgent Diagnostics

Hypertrophic Cardiomyopathy Panel

Hereditary hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy without predisposing cardiac or cardiovascular conditions. HCM is inherited in an autosomal dominant manner with an extremely variable phenotype, even within the same family, ranging from asymptomatic to progressive heart failure. Symptoms may include chest pain, orthostasis, palpitations, fatigue, and shortness of breath.
Targeted genes: BMPR2, CAV3, GLA, LAMP2, MT-TG, MT-TI, MT-TK, MT-TQ, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TTR
Source: ApolloGen

iGene Cardiac Panel

Covered Diseases / Risk Areas: Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Catecholaminergic Polymorphic Ventricular Tachycardia, Romano-Ward Long QT Syndromes, Brugada Syndromes, Familial Hypercholesterolemia, and Malignant Hyperthermia Susceptibility.
Targeted genes: ACTC1, APOB, COL3A1, DSG2, DSP, GLA, KCNH2, KCNQ1, LDLR, LMNA, MYBPC3, MYH7, MYL3, PCSK9, PKP2, PRKAG2, RYR1, RYR2, SCN5A, TNNI3, TNNT2, TPM1, and TTN
Source: ApolloGen

Infancy: Cardiomyopathies

Multi Gene Panel (23 Genes)
Targeted genes: AARS2 ACAD9 ACADM ACADS ACADVL AGK COX15 CPT1A CPT2 DSC2 DSP GLA JUP LAMP2 MTO1 RAF1 SCO2 SDHA SLC22A5 SLC25A20 SLC25A3 TAZ TMEM70
Source: Medical Genetics Center

Invitae Aortopathy Comprehensive Panel

Genetic testing for up to 22 genes which cause aortopathy; presenting as isolated thoracic aortic aneurysms and/or dissections (TAAD) or as a syndrome.
Source: Invitae

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

This test provides a comprehensive analysis of the genes associated with inherited arrhythmia and cardiomyopathy conditions. The Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel covers primary arrhythmia and cardiomyopathy syndromes.
Genetic testing for up to 121 genes that cause hereditary primary arrhythmia and/or cardiomyopathy, as well as syndromic causes of cardiomyopathy.
Source: Invitae

Invitae Arrhythmia Comprehensive Panel

Genetic testing for up to 57 genes that cause arrhythmia and arrhythmogenic cardiomyopathy, including LQTS, SQTS, Brugada syndrome, CPVT, and ARVC.
Source: Invitae

Invitae Cardio-Facio-Cutaneous Syndrome Panel

The Invitae Cardio-Facio-Cutaneous Syndrome Panel analyzes six genes that are associated with cardio-facio-cutaneous (CFC) syndrome. CFC syndrome is one of the RASopathies, which are a class of pediatric disorders associated with genes that are members of the mitogen-activated protein kinase (Ras/MAPK) pathway. This pathway is involved in a signal transduction cascade that is necessary for the proper formation of several types of tissue during embryonic and postnatal development.
Source: Invitae

Invitae Cardiomyopathy Comprehensive Panel

Genetic testing for up to 90 genes that cause inherited cardiomyopathy, including HCM, DCM, LVNC, ARVC, and some syndromic causes of cardiomyopathy.
Source: Invitae

Invitae Isolated and Syndromic Congenital Heart Disease Panel

The Invitae Isolated and Syndromic Congenital Heart Disease Panel analyzes 55 genes that are associated with both isolated and syndromic congenital heart defects. These genes were selected based on the available evidence to date to provide Invitae’s most comprehensive test for congenital heart disease (more commonly referred to as congenital heart defects).
Clinicians may also consider including additional genes associated with primary ciliary dyskinesia (PCD). There is significant clinical overlap between PCD and congenital heart disease, and it may be difficult to differentiate between PCD- and non-PCD-related heart defects early in life.
Source: Invitae

Invitae Laterality Disorders Panel

The Invitae Laterality Disorders Panel analyzes 35 genes that are associated with laterality defects, including situs inversus (a complete mirror-image arrangement of the internal organs) and heterotaxy spectrum (abnormal arrangement of one or more visceral organs and complex cardiovascular malformations). These genes were selected based on the available evidence to date to provide a comprehensive test for the molecular diagnosis of a laterality disorder.
Due to left-right asymmetries in their cardiovascular systems, heterotaxy patients often need complex cardiac surgeries. Compared to congenital heart defect (CHD) patients without heterotaxy, individuals with heterotaxy have increased postoperative morbidity and mortality—often with prolonged respiratory complications.
Source: Invitae

Left ventricular noncompaction (LVNC)

Targeted genes: ACTC1, CSRP3, DTNA, LDB3, LMNA, MYBPC3, MYH7, PLN, SGCD, TAZ, TCAP, TNNT2, TPM1

Source: CGC Genetics

Left Ventricular Noncompaction (LVNC) Gene Set

Targeted genes: ACTC1, CASQ2, DTNA, LDB3, LMNA, MYBPC3, MYH7, TAZ, TNNT2, VCL
Source: WUSTL

Left Ventricular Noncompaction NGS Panel

Targeted Genes: ACTC1, DTNA, LDB3, LMNA, MYBPC3, MYH7, TAZ, TNNT2, TPM1, VCL
Source: Fulgent Diagnostics

Long QT syndrome

Targeted genes: AKAP9, ALG10, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1

Source: CGC Genetics

Long QT Syndrome (LQTS)

Multi Gene Panel (7 Genes)
Targeted genes: CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
Source: Medical Genetics Center

Long QT Syndrome (LQTS) Gene Set

Targeted genes: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 - See more at: http://gps.wustl.edu/cardiac-disease#cardiogene
Source: WUSTL

Long QT Syndrome NGS Panel

Targeted Genes: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1
Source: Fulgent Diagnostics

Long QT syndrome panel

Targeted genes: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1

Source: Centogene

LVNCNEXT

LVNCNext is a targeted panel for patients with left ventricular non-compaction (LVNC).
LVNCNext is a next generation sequencing (NGS) and deletion/duplication panel of eight genes associated with LVNC: ACTC1, LDB3/ZASP, LMNA, MYBPC3, MYH7, TAZ, TNNT2 and TPM1.
Source: Ambry Genetics

LQTS Gene Sequencing & Del/Dup Panel

Targeted genes: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1

Source: GeneDx

Mitochondrial Cardiomyopathy

Multi Gene Panel (19 Genes)
Targeted genes: AARS2 ACAD9 ACADM ACADS ACADVL AGK COX15 CPT1A CPT2 GFM1 LAMP2 MTO1 SCO2 SDHA SLC22A5 SLC25A20 SLC25A3 TAZ TMEM70
Source: Medical Genetics Center

Pan-Cardio NGS Panel

Targeted Genes: (113) ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, APOA5, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALR3, CASQ2, CAV3, COX15, CPT1A, CRYAB, CSRP3, CTF1, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKTN, FLNA, FXN, GAA, GATA4, GATAD1, GJA5, GLA, GPD1L, HCN4, HRAS, ILK, JAG1, JPH2, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LDLR, LMNA, MAP2K1, MAP2K2, MRPL3, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NDUFAF1, NEBL, NEXN, NKX2-5, NPPA, NRAS, PDLIM3, PKP2, PLN, PRKAG2, PSEN2, PTPN11, RAF1, RANGRF, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SDHA, SGCD, SLC25A20, SNTA1, SOS1, SYNE1, TAZ, TBX1, TBX5, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
Source: Fulgent Diagnostics

RHYTHMFIRST AND RHYTHMNEXT

RhythmFirst is a panel including the three genes most commonly associated with long QT syndrome (LQTS), Brugada syndrome (BrS), and short QT syndrome (SQTS): SCN5A, KCNQ1, and KCNH2. These genes are implicated in over 80% of known genetic causes of LQTS and BrS, so RhythmFirst is an excellent first-tier testing option. RhythmNext is a panel including 36 genes associated with arrhythmogenic right ventricular dysplasia (ARVD),BrS, catecholaminergic polymorphic ventricular tachycardia (CPVT), LQTS, SQTS, other arrhythmias/channelopathies, as well as sudden cardiac arrest. Genes in RhythmNext include: AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, NKX2.5, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TBX5, TGFB3, TMEM43, TRDN, and TRPM4.
Source: Ambry Genetics

Short QT syndrome (NGS panel)

Targeted genes: KCNH2, KCNQ1, KCNJ2, CACNA1C, CACNB2

Source: CGC Genetics

Short QT Syndrome (SQTS)

Targeted genes: CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1
Source: WUSTL

SQTS Sequencing Panel

Targeted genes: KCNH2, KCNJ2, KCNQ1

Disorder:
Short QT Syndrome (SQTS)

Source: GeneDx

Sudden Cardiac Arrest Arrhythmia Sequencing Panel

Targeted genes: ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A

Disorders:
Sudden Cardiac Arrest
Sudden Unexplained Death

Source: GeneDx

Sudd Incode

"Best-in-class testing for Sudden Cardiac Death risk assessment"
Analyzes 55 genes related with sudden cardiac death (SCD).

Source: Selah Genomics

TAADNEXT

TAADNext detects mutations in all coding domains and splice junctions of: ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, and TGFBR2. Gross deletion/duplication analysis is performed for 17 genes (all except CBS, COL5A1, FLNA, SMAD4, and TGFB3). TAADNext identifies >96% of described mutations in these genes, when present (analytic sensitivity).
Source: Ambry Genetics

Teenager Stroke / Stroke-Like Episodes

Multi Gene Panel (21 Genes)
Targeted genes: ABCC6 AMACR CACNA1C CBS CECR1 COL3A1 COL4A1 COL4A2 FBN1 FLNA GLA HTRA1 NOTCH3 OTC POLG SLC2A10 TGFB2 TGFBR1 TGFBR2 TREX1 TTR
Source: Medical Genetics Center

Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)

Multi Gene Panel (16 Genes)
Targeted genes: ACTA2 CBS COL3A1 EFEMP2 FBN1 FLNA MYH11 MYLK NOTCH1 PRKG1 SKI SLC2A10 SMAD3 TGFB2 TGFBR1 TGFBR2
Source: Medical Genetics Center

TruSight Cardio Kit

The TruSight Cardio Kit uses next-generation sequencing (NGS) to provide comprehensive coverage of 174 genes with known associations to 17 ICCs, including cardiomyopathies, arrhythmias, aortopathies, and more. Genes were expertly selected with researchers at the National Heart and Lung Institute at the Imperial College of London. Content includes well-established genes that are important for heart diseases that run in families and emerging genes found in the literature.
Source: Illumina

Website

TruSeq Targeted RNA Expression

The TruSeq Targeted RNA Expression Cardiotoxicity Panel is a predesigned gene expression profiling solution for studying cellular pathways affected by cardiotoxic compounds or stress. The panel includes assays targeting 76 genes used as markers of the cardiotoxic response. All TruSeq Targeted RNA fixed panels are experimentally validated to ensure strong correlation with RNA sequencing.
Source: Illumina

Website


Hereditary Hemorrhagic Telangiectasia (HHT) - NGS Panels

HEREDITARY HEMORRHAGIC TELANGIECTASIA (HHT) TESTING

Hereditary hemorrhagic telangiectasia (HHT) is an inherited condition causing abnormalities in the blood vessels. Frequent nosebleeds, characteristic skin findings, and blood vessel malformations are common.
Ambry offers tiered, comprehensive next generation sequencing (NGS) panels of the 5 most common genes associated with HHT in order to provide accurate results for patients and their families and help guide their care and management.
Source: Ambry Genetics

Hereditary Hemorrhagic Telangiectasia NGS Panel

Targeted Genes: ACVRL1, ATM, ENG, RASA1, SMAD4
Source: Fulgent Diagnostics

Hereditary hemorrhagic telangiectasia panel

Targeted genes: ACVRL1, ADAM17, ENG, GDF2, PTPN14, RASA1, SMAD4

Source: Centogene

Hereditary Hemorrhagic Telangiectasia Panel

Targeted genes: ACVRL1 (ALK1), ENG, RASA1, SMAD4

Source: GeneDx

Invitae Hereditary Hemorrhagic Telangiectasia Panel

This test is for individuals with a clinical diagnosis of hereditary hemorrhagic telangiectasia (HHT). The primary Invitae Hereditary Hemorrhagic Telangiectasia Panel includes four genes that are definitively associated with HHT.
In addition to the primary panel, clinicians can also choose to include the gene GDF2, which has limited evidence of association with HHT. At this time, the association of GDF2 with HHT remains uncertain. However, some clinicians may wish to include GDF2 because it may prove to be clinically significant in the future.
Source: Invitae


Mendis S, Puska P, and Norving B (2011) Global atlas on cardiovascular disease prevention and control |ISBN: 978 92 4 156437 3|

Kathiresan S and Srivastava D (2012) Genetics of Human Cardiovascular Disease |PubMed|

Roberts R, Marian A.J., Sonny Dandona S, and Stewart A (2013) Genomics in Cardiovascular Disease |PubMed|

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