Familial Hypercolesterolemia

Biocerna offers the prioprietary FHConfirm test, an innovative reflex-based test that aims to improve the diagnosis of Familial Hypercholesterolemia (FH). FHConfirm is a comprehensive test that has the ability to pair a full cholesterol screen with a next-generation sequencing test of five genes known to be associated with FH from a single sample collection.

What is family hypercholesterolemia?

Familila hypercholosterolemia (FH) is a genetic disorder that hinders the liver's ability to remove the excess LDL cholesterol. High LDL levels are known to increase the risk of cardiovascular events such as heart attack and stroke.

There are two forms of FH. The most common form, which occurs in 1 in 250 people worldwide is called Heterozygous FH and is caused by a genetic mutation inherited by one parent. The other form of FH, which is extremely rare, is caused by inheriting from both patients and is called Homozygous FH.