Apolipoprotein B Mutation (R3531C)

Service Description

Apolipoprotein B (APOB) is a gene that provides instructions for making a protein that is a component of lipoproteins, which transport cholesterol and other fats in the blood. This test uses Real-Time PCR to detect a mutation in the APOB gene, specifically the R3531C mutation, which is associated with an increased risk of developing familial hypercholesterolemia (FH). FH is a genetic disorder characterized by very high levels of low-density lipoprotein (LDL) cholesterol, often referred to as "bad" cholesterol, in the blood. This condition can lead to the buildup of cholesterol in the walls of arteries, increasing the risk for cardiovascular disease and heart attacks at a younger age than typically seen in the general population. The R3531C mutation is inherited in an autosomal dominant pattern, which means that an affected person only needs to inherit one copy of the mutated gene to develop the condition. However, not all individuals with this mutation will develop FH or have significantly elevated LDL cholesterol levels. It's important to note that FH is a relatively rare condition, and not all individuals with the R3531C mutation will develop the condition. However, if an individual has a family history of FH or is experiencing symptoms of high cholesterol or cardiovascular disease at a young age, testing for this mutation may be recommended. Sample: BLOOD Results: 2 weeks Phlebotomy fee: £15 (included in price)