Familial Hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism. It is one of the most common autosomal dominant, or inherited, disease which affects the plasma clearance of LDL-cholesterol (LDL-C), resulting in premature onset of cardiovascular disease (CVD) and a higher mortality risk.₁₋₃
Common genetic defects in FH are mutations in three genes encoding proteins involved in the uptake of LDL-C from the plasma: the low density lipoprotein receptor (LDLR) gene (prevalence of 1 in 500), the apo-lipoprotein B (ApoB) gene (prevalence of 1 in 1000) and the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene (prevalence of less than 1 in 2500).₁₋₃
Patients who have one abnormal gene mutation are known as heterozygous. Heterozygous FH is a common genetic disorder, occurring in 1 person in every 200-500 in most countries. Homozygous FH occurs when the patient has two abnormal gene mutations; however this is much rarer, with an occurrence of 1 in a million.₄
The Familial Hypercholesterolemia (FH) Arrays I & II are rapid, simple and accurate diagnostic tests which enable simultaneous detection of 40 FH-causing mutations (20 mutations per array) within the LDLR, ApoB and PCSK9 genes, which are commonly implicated with FH.
- Simultaneous detection of 40 FH-causing mutations within three common genes implicated in FH saves time and cost
- Detects approximately 80% of disease causing mutations in the UK and Ireland population’
- Turnaround time of ~3 hours
- Samples can be assessed in small batches (as few as three samples)
- Streamlined workflow optimised for the molecular laboratory
- Single Tube multiplex PCR
- Added specificity due to combination of stringent PCR and array hybridisation
- Only 20ng of genomic DNA required
- Easy to interpret results using the Evidence Investigator dedicated software
- Futema, M., et al. Analysis of the frequency and spectrum of mutations recognised to cause FH in routine clinical practice in a UK specialist hospital lipid clinic. Atherosclerosis 2013; 229(1): 161-168.
- Williams, R.R., et al. Diagnosing Heterozygous Familial Hypercholesterolemia Using New Practical Criteria Validated by Molecular Genetics. American Journal of Cardiology 1993; 72:171-176.
- Rader, D.J., Cohen J., Hobbs, H.H. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. Journal of Clinical Investigation 2003; 111:1795-1803.
- Quereshi, N., Humphries, S.E., Seed, M., Rowlands, P., Minhas, R. Identification and management of familial hypercholesterolaemia: what does it mean to primary care? Br.J.Gen.Pract. 2009; 59: 773-778.