Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease. Many patients have mutations in the LDLR gene that encodes the LDL receptor protein, which normally removes LDL from the circulation. Patients who have one abnormal copy of the LDLR gene may have premature cardiovascular disease at the age of 30 to 40. Having two abnormal copies may cause severe cardiovascular disease in childhood. In most populations studied, heterozygous FH occurs in about 1:500 people, but not all develop symptoms. Homozygous FH occurs in about 1:1,000,000.
LDLR mutations are more common in certain populations, Afrikaner, French Canadians, Lebanese Christians, and Finns have high rates of specific mutations that make FH particularly common in these groups.
Purpose: Confirmation of Clinical Diagnosis/Carrier Testing
Methodology: Sequencing of entire coding region
Test Requisition: Sequencing Requisition
Specimen Requirements: 2-5 mL Blood- Lavender Top Tube
Sequencing CPT Code: 81406 Cost: $650.00 del/dup CPT Code: 81404 Cost: $500.00
Turn-around-time: 5 weeks
1. Rader DJ, Cohen J, Hobbs HH (2003). "Monogenic hypercholesterolemia: new insights in pathogenesis and treatment". J. Clin. Invest. 111 (12): 1795–803.
2. Durrington P (2003). "Dyslipidaemia". Lancet 362 (9385): 717–31.