Familial Hypercholesterolemia - PT. RAFA


Familial Hypercholesterolemia

 Molecular Testing

Rapid and reliable assessment of patients with suspected FH

Rapid simultaneous detection of mutations within the LDLR, ApoB and PCSK9 genes

Familial Hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism. It is characterised by high levels of low density lipoprotein (LDL) and early onset of cardiovascular disease. Three main genes which are known to cause FH are low density lipoprotein receptor gene (LDLR), apolipoprotein B (ApoB) and proprotein convertase subtilisin/kexin-type 9 (PCSK9).

Patients who have one abnormal copy (heterozygous) of these genes may have premature cardiovascular disease between the ages of 30 and 40. Having two abnormal copies (homozygous) may cause severe cardiovascular disease in childhood. Heterozygous FH is a common genetic disorder, occurring in 1 in 500 people in most countries, whereas homozygous FH is much rarer, occurring in 1 in a million births. Heterozygous FH, when detected early can be successfully treated with statins, bile acid sequestrants or other hypolipidemic agents that lower cholesterol levels. Accurate diagnosis can therefore lead to more tailored treatments and better patient outcomes.

The most common genetic defects in FH are LDLR mutations (prevalence of 1 in 500, depending on the population), ApoB mutations (prevalence of 1 in 1000) and PCSK9 mutations (prevalence less than 1 in 2500). The FH biochip array detects 19 mutations known to influence the function of these three genes, with the majority from the LDLR gene. This panel of mutations can detect 60% of FH positive patients in the UK and Ireland.

Clinical data

Several validation studies were completed using FH samples, with both blinded and un-blinded samples assessed. Total correlation of 98% was observed when using the FH array.

Benefits of the Familial Hypercholesterolemia (FH) Array

  • A rapid simple method for determining mutational status
  • Samples can be assessed in small batches (as low as 3 samples)
  • Easy to interpret results using the Evidence Investigator dedicated software
  • Turnaround time of ~ 3 hours
  • Streamlined workflow – protocol and reagents optimised for the molecular laboratory
  • System can be used to detect single base changes, insertions and deletions, within the same multiplex PCR
  • Only 20ng of genomic DNA required