Apolipoprotein B Mutation (R3500Q)

Service Description

ABOUT TEST The apolipoprotein B (APOB) gene provides instructions for making a protein called apolipoprotein B, which is a component of lipoproteins. Lipoproteins are responsible for transporting cholesterol and other lipids in the blood. A mutation in the APOB gene, specifically the R3500Q mutation, can lead to a condition called familial defective apolipoprotein B-100 (FDB). This condition 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. FDB is characterized by high levels of low-density lipoprotein (LDL) cholesterol, also known as "bad" cholesterol, in the blood. This can increase the risk for cardiovascular disease, including heart attacks and strokes, at a younger age than typically seen in the general population. Treatment for FDB typically involves lifestyle changes such as a heart-healthy diet, regular exercise, and avoiding smoking. In some cases, medications such as statins may also be used to lower LDL cholesterol levels. Regular monitoring of cholesterol levels and overall cardiovascular health is also important for managing the condition. It's important to note that FDB is a relatively rare condition, and not all individuals with the R3500Q mutation will develop the condition or have significantly elevated LDL cholesterol levels. However, if an individual has a family history of FDB 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)