Cardiac Genetic Testing

Mutations associated with inherited cardiovascular diseases and sudden cardiac death can be detected through our Lab’s exhaustive Cardiac Genetic Testing.

Our panel includes all genes known currently to be associated with the development of inherited cardiovascular diseases that can present as sudden death or other major adverse events. Cardiac Genetic  Testing can be ordered in smaller, disease-specific panels or in one comprehensive panel.

→ Comprehensive Cardiac Disease Assessment provides an in-depth look at a patient’s overall cardiac health, increases the detection of sub-clinical coronary artery disease, identifies the risk for artery wall Atherosclerotic Disease activity and Coronary Artery Disease. The panel also contains comprehensive arrhythmia and cardiomyopathy risk evaluation.

→ Comprehensive Arrhythmia Panel is used primarily to diagnosis cases in which a clearly defined phenotype cannot be established but in which cardiac arrhythmia is the main indication.

→ Comprehensive Cardiomyopathy Panel is used to diagnose cases in which there is an apparent degree of myocardial involvement but without a completely clear phenotype or with diagnostic uncertainties; when there is an overlap between phenotypes in the patient or family; and also can be used as a predictive test when a pathogenic mutation is detected.

→ Comprehensive Atherosclerosis and Diabetes Risk Panel tests for a patient’s risk for coronary artery and other vascular disease, and diabetes, including early detection of Maturity-Onset Diabetes of the Young (MODY).

Genetics and Familial Hypercholesterolemia

High cholesterol can be inherited, and patient risk for developing heart disease can be reduced by knowing important risk factors.

Family History. Any patient with a family history of high levels of LDL-C (bad cholesterol) may have a genetic variant that causes inherited high cholesterol, a condition known as Familial Hypercholesterolemia (FH) (or Type 2 Hyperlipoproteinemia). FH is highly prevalent in the United States, with 1.3 million people – 1 in 250 – having the condition and carrying and 20% increased risk of developing heart disease.

Ethnicity. While anyone with a close family member with FH or high LDL-C cholesterol levels is at risk, FH is particularly common among certain ethnic and racial groups, including those of French Canadian, Finnish, Lebanese and Dutch descent.

The Importance of an Early Diagnosis. FH is typically more severe, with higher cholesterol levels and heart disease at a significantly younger age, than non-genetic hypercholesterolemia. An early FH diagnosis can help patients make appropriate lifestyle adjustments and seek necessary treatments before the effects become permanent and irreversible. A diagnosis also is important to that patient’s family members at risk for the condition because the parents, siblings and children of a person who has the genetic variant that causes FH have a 50% chance of also having inherited that same genetic variant.

Genetics and Maturity-Onset Diabetes of the Young

Our panel distinguishes MODY, a form of diabetes caused by a mutation or changes in a single gene, from Type 1 and Type 2 diabetes.  

Family History and The Importance of Testing. MODY runs in families, tied to a single gene that is passed on from parent to child – Autosomal Dominant Inheritance. Any child of a parent with the MODY mutation has a 50% chance of inheriting that affected gene and developing MODY. Of the four types of MODY – HNF1-alpha, HNF4-apha, HNF1-beta and glucokinase – the first three carry long-term risks that should be monitored by a physician.