Genetic testing for

heart disease

Genetic testing can improve cardiovascular diagnosis, prognosis, and management

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Hereditary cardiovascular diseases affect more than 1 in 200 people.

The clinical utility of genetic testing for hereditary cardiovascular disease includes:


  • Confirms a clinical diagnosis and differentiates from other causes

  • Fulfills diagnostic criteria for complex heart disorders

  • Identifies at-risk family members accurately

Risk stratification

  • Identifies patients and family members at highest risk for arrhythmias, aortic dissections, and myocardial infarction

  • Predicts response to pharmacotherapies


  • Aids in treatment option decisions (e.g., defibrillator or pacemaker, enzyme therapy, surgery, transplant)

  • Guides lifestyle modifications to avoid triggering cardiac events

  • May aid in insurance coverage of precision medicines

(Graphic - heart)

Genetic testing can make a difference

Genetic testing provides important diagnostic and prognostic information for cardiomyopathies, arrhythmias, aortopathies, and familial hypercholesterolemia.

It can also identify at-risk family members—before life-threatening events occur.

Our printable guide explains how.

Graphic: How genetic variants are inherited

Early identification and treatment can be life-saving

For most hereditary cardiovascular diseases, first-degree family members (parents, siblings, children) have a 50% chance of having the same disease-causing genetic variant.

Once a family’s variant is identified, family members can be tested. Negative results eliminate the need for on-going clinical screening for many. Positive results mean at-risk family members can be monitored and treated early.

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Genetic testing: An integral component of cardiovascular medicine

A large number of cardiology disorders are hereditary. They're very difficult to diagnose without a genetic test. Genetic testing can also help decide the most effective course of treatment and who else in the family is at risk.

(Photo: Doctor and patient)

All major cardiology professional societies recommend genetic testing, including:

  • American College of Cardiology

  • American Heart Association

  • Heart Failure Society of America

Invitae is dedicated to making quality genetic testing accessible

Transparent pricing

Invitae’s flexible billing options ensure that cost is not a barrier to accessing genetic information.

Simplified family testing

Testing for blood relatives of patients found to have a pathogenic or likely pathogenic variant. Just order within 90 days of the original patient's result.

Support you can count on

Invitae genetic counselors can assist with test selection, result interpretation, and next steps. They can even talk to your patients directly.