Use

This test is used to detect point mutations, deletions, and duplications in the LDLR, APOB, and PCSK9 genes associated with Familial Hypercholesterolemia (FH). It is appropriate for individuals with a personal history of hypercholesterolemia, uncertain FH diagnosis, early cardiovascular disease, or characteristic lipid deposits (tendon xanthoma or corneal arcus). Genetic counseling and informed consent are strongly recommended, and in family cases testing the earliest affected individual first is advised.