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

CAE1016

Test Name

Aortopathy Panel

No. of Genes

Panel Content

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

Test Code

CAE1001

Test Name

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel

No. of Genes

Panel Content

DH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43

Test Code

CAE1002

Test Name

Brugada Syndrome - Core Panel

No. of Genes

Panel Content

KCNH2, SCN5A

Test Code

CAE1003

Test Name

Brugada Syndrome -Expanded Panel

No. of Genes

Panel Content

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

Test Code

CAE1004

Test Name

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel

No. of Genes

Panel Content

CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN

Test Code

CAE1005

Test Name

Comprehensive Cardiac Arrhythmias Panel

No. of Genes

Panel Content

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

Test Code

CAE1006

Test Name

*Comprehensive Cardiomyopathy Panel

No. of Genes

122

Panel Content

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

Test Code

CAE1007

Test Name

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

No. of Genes

Panel Content

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

Test Code

CAE1008

Test Name

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

No. of Genes

Panel Content

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

Test Code

CAE1009

Test Name

*Dyslipidaemia Panel (includes Familial Hypercholesterolaemia)

No. of Genes

Panel Content

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

Test Code

CAE1010

Test Name

*Hypertrophic Cardiomyopathy (HCM) - Core Panel

No. of Genes

Panel Content

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-T R, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR

Test Code

CAE1011

Test Name

*Hypertrophic Cardiomyopathy (HCM) - Expanded Panel

No. of Genes

Panel Content

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

Test Code

CAE1012

Test Name

Left Ventricular Noncompaction Cardiomyopathy (LVNC) Panel

No. of Genes

Panel Content

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

Test Code

CAE1013

Test Name

Long QT Syndrome (LQTS) - Core Panel

No. of Genes

Panel Content

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

Test Code

CAE1014

Test Name

Long QT Syndrome (LQTS) - Expanded Panel

No. of Genes

Panel Content

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

Test Code

CAE1015

Test Name

Short QT Syndrome (SQTS) Panel

No. of Genes

Panel Content

CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1, SLC4A3

Test Code

CAE1010b

Test Name

Transthyretin Amyloidosis (TTR Single Gene Test)

No. of Genes

Panel Content

TTR

*Panel includes the mitochondrial genome