Inherited Cardiovascular Disease

Genetic testing for inherited cardiovascular diseases offers the following benefits: provides actionable information for the clinical management of various inherited cardiovascular diseases such as cardiomyopathies, arrhythmic disorders, thoracic aortic aneurysms, and familial hypercholesterolemia (FH), facilitates early intervention, informs family planning, and promote enrollment in research studies.

People with an inherited cardiovascular disease have a higher risk for developing certain structural or functional issues in the heart due to a genetic variant that is passed down in their family. Most people are unaware they have an inherited cardiovascular disease because they often show no signs or symptoms, beyond a personal or family history of cardiovascular disease. Cardiovascular diseases are usually diagnosed via routine lab tests, such as electrocardiogram (EKG) and echocardiogram, while genetic testing is the only option available for diagnosing inherited forms of cardiovascular diseases.

Inherited Cardiovascular Diseases Panel Menu

Hypertrophic Cardiomyopathy NGS Panel

2ML1, ABCC9, ACADVL, ACTC1, ACTN2, AGL, ANKRD1, BAG3, BRAF, CACNA1C, CALR3, CAV3, CBL, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, FHL1, FKTN, FLNC, FXN, GAA, GATA4, GATAD1, GLA, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NF1, NRAS, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RASA1, RBM20, RIT1, RRAS, RYR2, SCN5A, SGCD, SHOC2, SOS1, SOS2, SPRED1, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
(86 genes)

Dilated Cardiomyopathy NGS Panel

ABCC9, ACADVL, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CASQ2, CAV3, CAVIN4, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL2, FKRP, FKTN, FLNC, GATA4, GATA6, GATAD1, GLA, ILK, JUP, LAMA4, LAMP2, LDB3, LMNA, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NPPA, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SDHA, SGCD, SLC22A5, TAZ, TBX20, TCAP, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, TXNRD2, VCL
(78 genes)

Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel

ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, NKX2-5, PDLIM3, PKP2, PLN, PRKAG2, RANGRF, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43, TNNI3, TNNT2, TTN
(46 genes)

Comprehensive Arrhythmias NGS Panel

ABCC9, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CPT1A, CTNNA3, DEPDC5, DES, DSC2, DSG2, DSP, EMD, FLNC, GJA5, GPD1L, GYG1, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, LDB3, LMNA, NKX2-5, NPPA, PCDH19, PDLIM3, PKP2, PLN, PRKAG2, PRRT2, RANGRF, RBM20, RYR2, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SLC25A20, SLC2A1, SLMAP, SNTA1, TBX5, TGFB3, TMEM43, TNNI3, TNNT2, TRDN, TRPM4, TTN
(76 genes)

Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel

ABL1, ACTA2, ADAMTS10, ADAMTS17, BGN, CBS, COL1A1, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FLNA, FOXE3, HCN4, IPO8, LOX, LTBP3, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2
(39 genes)

Familial Hypercholesterolemia NGS Panel

APOB, LDLR, LDLRAP1, PCSK9
(4 genes)

Specimen Requirements

Whole Blood preferred (2 EDTA tubes) or Buccal Swab or Extracted DNA (>3 μg from blood, buccal, tissue or fibroblasts)

Turnaround Time

3-6 weeks

Coverage

96% at 20x

Resources

Genetic Testing Recommendations for Inherited Cardiovascular Diseases.

Familial Hypercholesterolemia Genetic Testing Recommendations.

Innovative Gx Laboratories (IGx) is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory offering next-generation sequencing of coding regions and splice site junctions to detect both sequencing variants and copy number variants. Single-exon deletions or duplications, repeat expansions and deep intronic regions (greater than 20bp from an exon) may not be detected by this test. This test is not designed or validated for the detection of somatic mosaicism. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA).

Due to high GC content of certain exons, copy number analysis may have reduced sensitivity for partial gene deletions/duplications of TRDN. Confirmation of partial gene deletions/duplications are limited to individuals with a positive personal history of cardiac arrhythmia and/or individuals carrying a pathogenic/likely pathogenic sequence variant.