Familial Hypercholesterolemia NGS panel

Familial hypercholesterolemia (FH) is a cardiovascular disorder characterized by abnormally high levels of low-density lipoprotein (LDL) cholesterol in the blood. This condition affects about 1 in 250 individuals and increases the likelihood of developing coronary artery disease at a young age. Other features of FH include the development of visible lipid deposits under the skin (xanthomas) and in the eyes (corneal arcus). Individuals with FH require cholesterol-lowering medications, in addition to diet and lifestyle management, to control their cholesterol levels. FH is caused by pathogenic variants in the APOB, LDLR, PCSK9, and LDLRAP1 genes. Pathogenic variants in APOB, LDLR, and PCSK9 cause autosomal dominant FH; however, biallelic LDLR pathogenic variants may be seen in individuals with severe, early onset disease. Pathogenic variants in LDLRAP1 cause a rare autosomal recessive type of hypercholesterolemia, in which individuals have LDL cholesterol levels of  greater than 400 mg/dL.

Gene	Accession	Disorder	MIM	Inheritance
APOB	NM_000384.3	Hypercholesterolemia, familial, 2	144010	AD
LDLR	NM_000527.4	Hypercholesterolemia, familial, 1	143890	AD, AR
LDLRAP1	NM_015627.3	Hypercholesterolemia, familial, 4	603813	AR
PCSK9	NM_174936.4	Hypercholesterolemia, familial, 3	603776	AD