Familial Hypercholesterolemia Multiplex Array by Randox Laboratories Ltd.

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.

Familial Hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism. It is one of the most common autosomal dominant, or inherited, diseases which affect the plasma clearance of LDL-cholesterol (LDL-C), resulting in premature onset of cardiovascular disease (CVD) and a higher mortality risk.

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).

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.

Features:

• 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
• Simple report format, with zero post result analysis required