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:

Diagnosis

  • 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

Management

  • 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.

Download guide
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.

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(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

Download guidelines

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.

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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.

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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.

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