Cardiology Genetic Panel
Hereditary heart condition screening
What is this test?
Our cardiology genetic panel screens for hereditary heart conditions that can cause sudden cardiac events, progressive heart failure, or elevated cholesterol levels. Many inherited heart conditions — including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic conditions (Long QT, Brugada syndrome), and familial hypercholesterolemia — may have no symptoms until a serious event occurs. Genetic testing identifies at-risk individuals so that preventive measures, surveillance, and targeted treatments can be started before complications develop.
Key Benefits
Identifying inherited arrhythmias or cardiomyopathies enables preventive interventions — including medications, activity modifications, or implantable defibrillators — before a catastrophic event.
A positive result triggers cascade testing of first-degree relatives, identifying other family members at risk who can benefit from early surveillance.
Genetic diagnosis can change clinical management — for example, specific cardiomyopathy subtypes respond differently to medications and devices.
FH affects 1 in 250 people and causes dangerously high LDL from birth. Early genetic diagnosis enables aggressive lipid-lowering therapy that prevents premature heart attacks.
How It Works
A blood sample is drawn at your clinic or collection center.
DNA is extracted and sequenced across all genes associated with inherited cardiomyopathies, arrhythmias, aortopathies, and lipid disorders.
Detected variants are classified according to ACMG/AMP guidelines, with additional review against ClinVar, ClinGen, and cardiac-specific variant databases.
A comprehensive report details pathogenic and likely pathogenic findings with clinical implications, management recommendations, and cascade testing guidance for family members.
Genetic counseling is available to review results, discuss implications for cardiac surveillance, and coordinate cascade testing of at-risk relatives.
Who should consider this test?
- Individuals with a family history of sudden cardiac death, cardiomyopathy, or arrhythmias
- Patients with unexplained cardiac symptoms (palpitations, syncope, heart failure at young age)
- Competitive athletes or military personnel requiring cardiac risk assessment
- Individuals with severely elevated LDL cholesterol or early coronary artery disease
- Family members of someone diagnosed with a hereditary cardiac condition
Conditions Screened
Accuracy & Clinical Evidence
NGS panel achieves >99% analytical sensitivity for coding region variants across all targeted cardiac genes with >100x mean coverage.
Genetic testing for inherited cardiac conditions is endorsed by the American Heart Association, European Society of Cardiology, and Heart Rhythm Society. Cascade genetic testing of families with identified mutations has been shown to reduce cardiac events through targeted surveillance and preventive therapy.
For Healthcare Providers
Comprehensive NGS panel covering >100 genes associated with inherited cardiomyopathies (HCM, DCM, ARVC, LVNC, RCM), channelopathies (LQTS, BrS, CPVT, SQTS), aortopathies (Marfan, Loeys-Dietz, vEDS), and lipid disorders (FH, sitosterolemia). Sequencing performed on Illumina platform with >100x mean coverage. Copy number variant (CNV) analysis included. Variant classification per ACMG/AMP with ClinGen cardiac-specific expert panel criteria where available.
Important Limitations
- A negative result does not eliminate the possibility of an inherited cardiac condition — not all causative genes may be known or included in the panel.
- Variants of uncertain significance (VUS) are common in cardiac genetics and may require periodic reclassification.
- Genetic testing should be interpreted in the context of clinical findings, family history, and cardiac imaging.
- Penetrance of many cardiac genetic variants is incomplete — not all variant carriers will develop disease.
Frequently Asked Questions
Test Details
Interested in this test?
Speak with our team to learn more about ordering this test or to get a consultation.
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