HEART DISEASE — GENETIC RISK

Heart Disease Genetic Testing — cardiovascular disease is 40-60% heritable, and over 100 genes cause cardiomyopathy, arrhythmia, aortopathy, and lipid disorders with gene-specific management that prevents sudden cardiac death.

Whole genome sequencing evaluates all cardiovascular disease genes — cardiomyopathy (TTN, LMNA, MYH7), arrhythmia (KCNQ1, SCN5A), aortopathy (FBN1, ACTA2), and lipid genes (LDLR, APOB) — from a single comprehensive test.

MYH7
TTN
LMNA
KCNQ1
SCN5A
FBN1
LDLR

About this condition

Heart Disease — Genetic Risk

Cardiovascular disease (CVD) accounts for ~700,000 US deaths annually. CVD heritability is 40-60%. Over 100 genes cause monogenic cardiovascular conditions: hypertrophic cardiomyopathy (MYH7, MYBPC3), dilated cardiomyopathy (TTN, LMNA), arrhythmogenic cardiomyopathy (PKP2), Long QT syndrome (KCNQ1, KCNH2, SCN5A), Brugada syndrome (SCN5A), familial hypercholesterolemia (LDLR, APOB, PCSK9), and hereditary aortopathies (FBN1, TGFBR1/2, ACTA2).

Gene-specific management is critical: LMNA DCM has high arrhythmia risk → earlier ICD implantation vs. TTN DCM which is more benign. Long QT type determines drug avoidance (LQT1: avoid swimming; LQT2: avoid alarm clocks; LQT3: SCN5A → mexiletine may help). Aortopathy surgery threshold is 5.0 cm for Marfan vs. 4.0 cm for Loeys-Dietz. FH requires early statin therapy, PCSK9 inhibitors, or inclisiran.

Standard cardiac gene panels test 50-150 genes for specific indications (cardiomyopathy panel, arrhythmia panel, aortopathy panel). Patients often need multiple panels as phenotypes overlap. WGS evaluates all cardiovascular genes simultaneously — plus pharmacogenomic variants affecting cardiac drug metabolism (CYP2D6 for metoprolol, CYP2C19 for clopidogrel, VKORC1/CYP2C9 for warfarin).

The specific gene determines ICD timing, surgical thresholds, drug selection, and activity restrictions. Treating 'cardiomyopathy' the same regardless of gene is like treating all infections with the same antibiotic — gene-specific management saves lives.

Gene locus: MYH7 (14q11.2), TTN (2q31.2), LMNA (1q22), KCNQ1 (11p15.5), SCN5A (3p22.2), FBN1 (15q21.1), LDLR (19p13.2), and 100+ additional genes

Over 100 cardiovascular genes with gene-specific management for ICD timing, surgical thresholds, and drug selection. WGS replaces multiple indication-specific panels with one comprehensive test.

Gene-specific ICD decisions prevent sudden cardiac death — LMNA requires early ICD, TTN often does not

LMNA dilated cardiomyopathy has high sudden death risk even with mild LV dysfunction → earlier ICD implantation. TTN dilated cardiomyopathy has lower arrhythmia risk → ICD based on standard criteria. Without molecular genotyping, all DCM patients are managed identically — under-treating LMNA and potentially over-treating TTN.

Cardiovascular pharmacogenomics — CYP2D6, CYP2C19, VKORC1 guide cardiac drug selection from the same WGS data

CYP2D6 poor metabolizers need metoprolol dose reduction. CYP2C19 poor metabolizers need prasugrel instead of clopidogrel. VKORC1/CYP2C9 variants determine warfarin dose. WGS provides these pharmacogenomic variants alongside the structural cardiac gene evaluation — comprehensive cardiac genetics and pharmacogenomics from one test.

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. 200+ physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Ships within 48 hours · Results in 6–8 weeks

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