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Confirm a clinical diagnosis of coronary artery disease and identify presymptomatic family members, guiding prophylactic measures.
This analysis does not rule out germline mosaicism, the presence of large chromosomal aberrations (including deletions, insertions, and rearrangements), mutations in regions or genes not included in this test, and possible inter/intragenic interactions between sequence variants. False-positive or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, mislabeled specimens, or erroneous representation of family relationships.
Coronary artery disease (CAD) affects roughly 8% of Americans 20 years of age and older and is one of the leading causes of morbidity and mortality in the US. Genetic testing for the presence of germline mutations in the genes known to be associated with early-onset CAD and familial hypercholesterolemia (FH) may:
• Confirm a diagnosis of familial hypercholesterolemia
• Identify first-degree relatives of an index patient who has FH or early-onset coronary artery disease are at increased risk and may benefit from the initiation of preventative treatment
• Identify patients who carry mutations in lipid biosynthesis genes who may be at increased risk for CAD and may benefit from regular cardiac screening
• Facilitate appropriate genetic counseling
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