The Hereditary High Cholesterol test analyzes the three genes currently known to cause the majority of Familial Hypercholesterolemia (FH).
FH is an inherited condition associated with very high levels of cholesterol at an early age, specifically a type of cholesterol called LDL-C.
Having too much LDL-C can cause it to build up in the arteries, which are the blood vessels that take blood from the heart to the rest of the body. As cholesterol and other substances build up in the arteries, they harden and narrow, restricting blood flow. This can lead to coronary heart disease (CHD), also known as coronary artery disease (CAD), which is the most common type of heart disease, and can lead to heart attack and stroke.
Genes analyzed: LDLR, APOB, PCSK9
*APOB: exon 1 is not analyzed. LDLR: in the promoter region, the detection of deletions, duplications, and complex structural rearrangements may be limited. PCSK9: only the first 7bp of intron 8 are analyzed.