TEST CODE: 008848

DIAGNOSTIC TEST FOR: HEART DISEASES

WHEN TO CONSIDER THIS TEST:

Genetic testing may be appropriate if you (or a family member) has a known or suspected diagnosis of one or more of the following:^2–7

– a heart condition present from birth cardiomyopathy

– conditions that affect the aorta

– genetic forms of high cholesterol and high blood pressure

– pulmonary hypertension

– sudden and unexplained cardiac arrest

– unexplained irregular heartbeat (arrhythmia)

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

Testing for Hereditary Heart Disease

“Know your risks—and your treatment options”

The genetics of hereditary heart disease

In some cases, heart disease occurs when a person inherits certain genetic variants that are associated with a disease. Hereditary heart disease may affect multiple people in one family.

About 1 in 3 adults will develop some form of heart disease during their lifetimes.

What are the benefits of testing?

Genetic testing gives you information that may help you and your healthcare provider:

– establish or confirm your specific diagnosis

– provide an explanation of the underlying cause of your heart condition

– make informed medical decisions and provide an opportunity to start risk reduction strategies

– understand whether you are at risk of developing an underlying condition that affects more than one organ or system in your body (multi-system conditions)

– identify other at-risk relatives for whom genetic testing is recommended

Testing for at-risk family members

Identifying at-risk family members is one of the most important benefits of genetic testing. If you have a genetic variant, your immediate family members have up to a 50% chance of having the same variant. Other relatives may also be at risk.

What are the potential results?

A POSITIVE TEST RESULT CAN:

If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.

A NEGATIVE TEST RESULT:

If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.

AN UNCERTAIN VARIANT TEST RESULT:

In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.

Take action based on your results 

With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:

– increased or earlier screenings

– lifestyle modifications

– early intervention to prevent the onset of disease