TEST CODE: 008832

DIAGNOSTIC TEST FOR: CARDIOLOGY

Genetic testing may be appropriate if you have a known or suspected diagnosis of one or more of the following:

– unexplained arrhythmia

– cardiomyopathy

– sudden and unexplained cardiac arrest

– conditions that affect the aorta

– hypercholesterolemia

– pulmonary hypertension

– congenital heart disease

– a family member with one of the above conditions whose genetic cause is already known

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

Genetic Testing for Cardiology

Early action saves lives. Understand your cardiovascular risk

The genetics of heart conditions

About one-third of all adults will develop some form of heart condition during their lifetimes.  Many types of heart conditions occur due to a combination of risk factors; some are hereditary.  Hereditary heart conditions occur as a result of disease-associated genetic variations also called pathogenic variants that we inherit in our DNA. Hereditary heart conditions are often diagnosed at a young age and may affect many people in a family. 

How can genetic testing help me?

Knowledge is a powerful tool when it comes to heart conditions. People with certain types of heart conditions may benefit from genetic testing to better understand risks, confirm a diagnosis, or inform an appropriate medical management plan or a combination of all three.

Genetic testing for heart conditions is recommended by medical societies including the American Heart Association, American College of Cardiology, and Heart Rhythm Society.

What genetic diagnostics can be offered to patients with cardiological diseases?

Genetic diagnostics is the most efficient way to subtype hereditary cardiovascular diseases. It forms the basis for selecting the right treatment and making well-informed disease management decisions

In channelopathies, a genetic diagnosis can help to define lifestyle recommendations and select adequate medications, as well as aid in making decisions on placing an ICD. In aortic diseases, identifying the underlying genetic defect can help determine the timing of surgical intervention. For hypertrophic cardiomyopathy (HCM), a genetic diagnosis can be the only way to differentiate classical sarcomere disease from phenocopies such as Fabry disease, rasopathies, and glycogen storage disease. Knowing the underlying genetic defect can help to tailor treatment and follow-up strategies that improve a patient’s outcome.

As a majority of these diseases are inherited in an autosomal dominant manner and have an elevated risk for sudden cardiac death, genetic diagnosis is considered the most effective tool for family-member risk stratification. Identifying family members at risk makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Recommendations on lifestyle choices, such as avoiding competitive sports, can significantly benefit individuals carrying channelopathy and cardiomyopathy mutations. Genetic diagnosis can also help in family planning.

What are the benefits of genetic testing?

Genetic testing produces information that may help you or your healthcare provider:

– establish or confirm your specific diagnosis 


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


– uncover potential risk of developing an underlying, multi-system condition that affects more than your heart 


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


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


– make informed family planning decisions 


Genomed’s Cardiology panels

– Arrhythmia and Cardiomyopathy Comprehensive Panel

– Arrhythmia Comprehensive Panel

– Arrhythmogenic Cardiomyopathy Panel

– Brugada Syndrome Test

– Catecholaminergic Polymorphic Ventricular Tachycardia Panel

– Long QT Syndrome Panel

– Short QT Syndrome Panel

– Cardiomyopathy Comprehensive Panel

– Arrhythmogenic Cardiomyopathy Panel

– Dilated Cardiomyopathy Panel

– Hereditary Hemochromatosis Panel

– Hypertrophic Cardiomyopathy Panel

– Left Ventricular Noncompaction Panel

– Rasopathies Comprehensive Panel

– Transthyretin Amyloidosis Test

– Cardiomyopathy and Skeletal Muscle Disease Panel

– Aortopathy Comprehensive Panel

– Ehlers-Danlos Syndrome Panel

– Loeys-Dietz Syndrome Panel

– Marfan Syndrome Test

– Familial Hypercholesterolemia Panel

– Pulmonary Arterial Hypertension Panel

– Hereditary Hemorrhagic Telangiectasia Panel

– Capillary Malformation-Arteriovenous Malformation Syndrome Test

– Congenital Heart Disease Panel

– CHARGE Syndrome Test

– Holt-Oram Syndrome Test

– Sotos Syndrome Test

Please contact us for the complete list of genes included on the multi-cardiovascular panel and associated heart conditions.

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