Cardiomyopathy and Familial Hypercholesterolemia Panel

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The Cardiomyopathy segment of this panel examines 66 genes associated with hereditary cardiomyopathies including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), Left ventricular non-compaction cardiomyopathy (LVNC), and hereditary arrhythmogenic right ventricular cardiomyopathy (ARVC).

 

Patients identified with hereditary cardiomyopathy can benefit from increased surveillance and preventative steps to better manage their risks. Medical intervention can include lifestyle changes, medications, implantable devices, medical procedures, and surgery. A patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.

 

Testing
Testing is done for patients with personal and/or family history suggestive of hereditary cardiomyopathy. Warning signs for hereditary cardiomyopathies can include but are not limited to, episodes of chest pain, dizziness, fatigue, abnormal heart rate, shortness of breath, swelling of the extremities, and weight gain. Cardiomyopathies can affect patients of all ages.

 

 

The Familial hypercholesterolemia (FH) segment of this panel examines 4 genes associated with FH: APOB, LDLR, LDLRAPl, and PCSK9. Patients identified with FH can benefit from increased surveillance and preventative steps to better manage their risk. Medical intervention can include combination medication therapy, low-fat diet, exercise, weight control, and not smoking.

 

Testing
Testing is done for patients with a personal or family history suggestive of Familial Hypercholesterolemia. Warning signs can include but are not limited to, high cholesterol levels, very high levels of low-density lipoprotein, and cardiovascular disease.

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