Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that affects approximately 1 in 500 persons worldwide.
Clinically, patients with FH have a higher risk of developing coronary artery disease and atherosclerosis at an early age due to mutations on a gene, Low-Density Lipoprotein Receptor (LDLR), which helps remove cholesterol from the blood.
According to the American Heart Association and the World Health Organization, genetic diagnosis is considered as a main part of the gold standard for Familial Hypercholesterolemia. But until LIPOchip, cost effective testing has been a challenge since there are several hundred relevant gene mutations.
LIPOchip solves this problem and allows the accurate, rapid and cost-effective screening for more than 250 mutations in the LDLR, APOB and PCSK9 genes as well as the detection of copy number changes (10% of all the mutations). Some of the advantages of a genetic-based confirmation are:
With the collaboration of:
