Familial hypercholesterolemia

Home Familial hypercholesterolemia

Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood (>290 mg/dl, and LDL cholesterol >200mg/dL).

People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease. This condition occurs greatly increases a person’s risk of having a heart attack or a stroke at a young age.

Hypercholesterolemia is inherited in an autosomal dominant pattern and newer studies estimate that ~1/250 people are affected. More than 90% of cases are due to mutations in LDLR gene (Low-density lipoprotein receptor) and more than 1200 different mutations have been detected in this gene. Other frequently mutated genes are APOB and PCSK9.    


Molecular analysis of the coding region of LDLR and PCSK9 genes and mutation in the position R3500 of APOB gene using Next Generation Sequencing, in order to detect mutations that are associated with development of Familial Hypercholesterolemia.

Sample type: Peripheral blood in EDTA

Time to result: 3 weeks