Genetic variants have been associated with a variety of cardiac conditions, including cardiac arrhythmias, cardiomyopathies, and dyslipidaemias. Clinical genetic testing is becoming more mainstream in the field of cardiology and has been recommended by several cardiac associations and societies¹.

Genetic testing for cardiac conditions can help you, the Healthcare Practitioner, to:

Investigate if there is a genetic cause underlying the symptoms your patient is experiencing and establish a precise diagnosis.
Identify your patient’s risk for developing additional related symptoms in the future and be more informed on their prognosis.
Establish and implement personalised and tailored treatment plans for patients in whom an underlying genetic cause has been identified.
Identify and access certain medications that may benefit your patient.
Identify family members who may also be a risk, roll out cascade testing, and begin taking preventative measures where appropriate e.g. increased surveillance, screening at an earlier age, lifestyle changes, treatment.
Direct your patients towards helpful patient resources and support groups.
Assist your patients with family planning.

Wilde AAM, Semsarian C, Márquez MF, et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases [published correction appears in Europace. 2022 Sep 1;24(8):1367. doi: 10.1093/europace/euac106]. Europace. 2022;24(8):1307-1367. doi:10.1093/europace/euac030

Cardiology Gene Panel Tests available at Genseq

Genseq offer a range of cardiology gene panels (see table below). These are in silico panels based on whole exome sequencing (WES) data. All panels include single nucleotide variants (SNV), small insertions/deletions (indels), and copy number variation (CNV) analysis. Panels marked with an * in the table below also include mitochondrial variant analysis.

For some conditions, we offer a core and an extended panel, giving you flexibility in the scope of analysis required for your patient. The core panels include genes with high or moderate level of evidence for this gene-disease association in the literature. The expanded panels include genes with high, moderate, or low level of evidence for this gene-disease association in the literature. Conditions in which there are two panel options include: Brugada syndrome, Dilated cardiomyopathy (DCM) and conduction defects, Hypertrophic Cardiomyopathy (HCM), and Long QT syndrome (LQTS).

We also offer two comprehensive panels, one for cardiac arrhythmias (43 genes) and the other for cardiomyopathies (122 genes), for cases in which a broader scope of analysis is required.

Test Code

Test Name

No. of Genes

Panel Content

CAE1016

Aortopathy Panel

ABL1, ACTA2, ARIH1, ASPH, BGN, CBS, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FOXE3, FLNA, IPO8, LOX, LTBP3, MFAP5, MYH11, MYLK, NOTCH1, PMEPA1, PLOD1, PRKG1, SECISBP2, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, THSD4

CAE1001

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel

CDH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43

CAE1002

Brugada Syndrome - Core Panel

KCNH2, SCN5A

CAE1003

Brugada Syndrome -Expanded Panel

ANK2, CACNA1C, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNH2, SCN1B, SCN2B, SCN3B, SCN5A, TRPM4

CAE1004

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel

CDH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43

CAE1005

Comprehensive Cardiac Arrhythmias Panel

AKAP9, ANK2, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GPD1L, HCN4, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, LMNA, PKP2, PLN, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLC4A3, SNTA1, TECRL, TGFB3, TMEM43, TRDN, TRPM4

CAE1006

*Comprehensive Cardiomyopathy Panel

122

ABCC9, ACTC1, ACTN2, ALPK3, BAG3, CACNA1C, CAV3, CDH2, COX15, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EPG5, EYA4, FHL1, FHOD3, FKTN, FLNC, FXN, GAA, GATAD1, GLA, HAMP, HCN4, HFE, HJV, IDH2, JPH2, JUP, NKX2-5, LAMA4, LAMP2, LDB3, LMNA, MIB1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOZ2, MYPN, NEXN, PKP2, PLN, PPCS, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN5A, SDHA, SGCD, SLC25A4, SLC40A1, SPEG, TAFAZZIN, TBX5, TCAP, TFR2, TGFB3, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

CAE1007

*Dilated Cardiomyopathy (DCM) and Conduction Defects - Core Panel

ABCC9, ACTC1, ACTN2, BAG3, CSRP3, DES, DMD, DSP, EPG5, EYA4, HAMP, HFE, HJV, IDH2, LMNA, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYH6, MYH7, NEXN, PLN, PPP1R13L, RBM20, SCN5A, SGCD, SLC40A1, SPEG, TAFAZZIN, TCAP, TFR2, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL

CAE1008

*Dilated Cardiomyopathy (DCM) and Conduction Defects - Expanded Panel

ABCC9, ACTC1, ACTN2, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, DSP, EPG5, EYA4, FKTN, FLNC, GATAD1, HAMP, HFE, HJV, IDH2, JPH2, LAMA4, LDB3, LMNA, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, PPCS, PPP1R13L, PRDM16, PSEN1, PSEN2, RAF1, RBM20, SCN5A, SDHA, SGCD, SLC40A1, SPEG, TAFAZZIN, TCAP, TFR2, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, VCL

CAE1009

*Dyslipidaemia Panel (includes Familial Hypercholesterolaemia)

ABCA1, ABCG5, ABCG8, ALMS1, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CREB3L3, CYP27A1, GPD1, GPIHBP1, LDLR, LDLRAP1, LIPA, LMF1, LPL, PCSK9

CAE1010

*Hypertrophic Cardiomyopathy (HCM) - Core Panel

ACTC1, ACTN2, ALPK3, CACNA1C, CSRP3, FHL1, FHOD3, FLNC, GLA, LAMP2, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR

CAE1011

*Hypertrophic Cardiomyopathy (HCM) - Expanded Panel

ABCC9, ACTC1, ACTN2, ALPK3, BAG3, CACNA1C, CAV3, COX15, CRYAB, CSRP3, DES, FHL1, FHOD3, FLNC, FXN, GAA, GLA, JPH2, LAMP2, LDB3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PTPN11, RAF1, RIT1, SLC25A4, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

CAE1012

Left Ventricular Noncompaction Cardiomyopathy (LVNC) Panel

ACTC1, DTNA, HCN4, LDB3, MIB1, MYBPC3, MYH7, NKX2-5, PRDM16, RYR2, TAFAZZIN, TBX5, TNNT2, TPM1, TTN

CAE1013

Long QT Syndrome (LQTS) - Core Panel

CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A, TRDN

CAE1014

Long QT Syndrome (LQTS) - Expanded Panel

AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN

CAE1015

Short QT Syndrome (SQTS) Panel

CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1, SLC4A3

CAE1010b

Transthyretin Amyloidosis (TTR Single Gene Test)

TTR

*Panel includes the mitochondrial genome