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Genetic testing for heart disease

Genetic testing can improve cardiovascular diagnosis, prognosis, and management

Invitae advantage

More than 1 in 200 people have an inherited form of heart disease, but most don’t know it.

Patients with an inherited cardiovascular condition may have few or no symptoms but still face significant risk of heart disease, including sudden cardiac arrest. Genetic testing can help save lives.

Putting cardiac genetics to work for your patients

Benefits of testing

Genetic information impacts diagnosis, prognosis, and management

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When to test

Quick reference guides and an overview video help identify candidates

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Test options

A broad testing menu means we have the tests your patients need

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Invitae advantage

Fast, affordable, high-quality testing, plus family testing at no additional charge

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Genetic testing: An integral component of cardiovascular medicine

Benefits of genetic testing

DIAGNOSIS
  • Confirms a clinical diagnosis
  • Differentiates from other causes
  • Fulfills diagnostic criteria for complex heart disorders
  • Identifies at-risk asymptomatic and pre-symptomatic family members

PROGNOSIS
  • Identifies patients and family members at highest risk for life-threatening arrhythmias, aortic dissections, or heart failure
  • Predicts response to pharmacotherapies

MANAGEMENT
  • Informs avoidance of certain medications and guides lifestyle modifications to avoid triggering cardiac events
  • Aids in the decision to place implantable cardiac defibrillator or pacemaker
  • Directs treatment options such as enzyme replacement therapy, early surgical intervention, and heart transplantation
  • Enables appropriate screening intervals and interventions for at-risk family members

Genetic testing is recommended by guidelines and consensus statements endorsed by professional societies including the American Association for Thoracic Surgery (AATS), American College of Cardiology (ACC), American Heart Association (AHA), Centers for Disease Control and Prevention (CDC), Heart Failure Society of America (HFSA), Heart Rhythm Society (HRS), and Pediatric & Congenital Electrophysiology Society (PACES).1-5

Identify patients who can benefit from genetic testing

There are certain red flags in family histories that can indicate an increased risk for inherited cardiac disorders. In this video, genetic counselor Amy Sturm describes what clinicians and patients should look for in family histories.

Watch video

Invitae’s quick reference guides offer direction on when to consider genetic testing.

Aortopathy

View guide

Arrhythmia and cardiomyopathy

View guide

Familial hypercholesterolemia

View guide

A broad cardiology genetic testing menu

Invitae’s broad test catalog ensures you can order the right test for each patient. Test for the following conditions:

Cardiomyopathy

  • Hypertrophic cardiomyopathy
  • Familial or idiopathic dilated cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy
  • Peripartum cardiomyopathy
  • Left ventricular non-compaction
  • Familial amyloidosis

Aortopathy

  • Aortic aneurysm and/or dissection
  • Marfan syndrome
  • Loeys-Dietz syndrome
  • Vascular Ehlers-Danlos syndrome

Arrhythmia

  • Long QT syndrome
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • Brugada syndrome
  • Unexplained sudden death
  • Unexplained cardiac arrest
  • Short QT syndrome

Additional areas

  • Familial hypercholesterolemia
  • Congenital heart defects
  • Familial or idiopathic pulmonary arterial hypertension
  • Hereditary hemorrhagic telangiectasia

Invitae is working toward one simple goal: Making quality genetic testing accessible to those who need it.

Test any number of cardiology genes for the same low price, and receive results in 14 days on average

Invitae testing is covered by many insurance plans; our $250 patient-pay option and patient assistance program help make high-quality testing accessible

Negative result? Test other cardiology genes at no additional charge
Positive result? Test first-degree family members at no additional charge

Genetic counselors available on demand to help identify patients who could benefit from testing, discuss tough cases, and even counsel your patients directly

Sponsored testing program for hereditary ATTR amyloidosis

Invitae offers no-charge genetic testing to eligible patients at risk for hereditary ATTR amyloidosis through a partnership with Alnylam Pharmaceuticals.

Alnylam Act™ for hereditary ATTR amyloidosis offers genetic testing at no charge for individuals (over 18 years of age) who may carry a genetic variant associated with hereditary ATTR (hATTR) amyloidosis, an inherited disease that is often misdiagnosed due to its constellation of symptoms.

Does my patient qualify?

Get started

Considering integrating genetics into your practice? Get started with this overview guide.

1. Request free kits for collecting patient specimens

2 Order a test using Invitae’s HIPAA-compliant online portal or on paper

  • Call Clinical Consult at 800-436-3037 if you would like to review patient cases or differentiate between testing options.

3. Receive an email when your results are ready (14 days on average)

  • If you have any questions about the results or their clinical implications, our genetic counselors are available to discuss.

Take the first step by requesting a free specimen collection kit today.

Request a kit

References

  1. Al-Khatib SM et al. J Am Coll Cardiol. 2017; S0735-1097(17)41306-4.
  2. Ackerman MJ et al. Heart Rhythm. 2011;8(8):1308-39.
  3. Gersh BJ et al. Circulation. 2011;124(24):2761-96.
  4. Hershberger RE et al. J Card Fail. 2009;15(2):83-97.
  5. Hiratzka LF et al. Circulation. 2010;121:e266-e369.