Homocysteine Mutation (MTHFR, Α1298C)

Service Description

Real-Time PCR: The MTHFR A1298C mutation is another common genetic variation in the MTHFR gene that affects the production of the enzyme methylenetetrahydrofolate reductase (MTHFR). This mutation results in a reduced activity of the MTHFR enzyme, leading to an accumulation of homocysteine in the blood, similar to the MTHFR C677T mutation. Elevated levels of homocysteine have been associated with an increased risk of cardiovascular disease, stroke, venous thromboembolism, and pregnancy complications such as preeclampsia and neural tube defects. However, it is important to note that the relationship between the MTHFR A1298C mutation, homocysteine levels, and disease risk is complex, and not all individuals with the mutation will develop these conditions. Testing for the MTHFR A1298C mutation may be useful in identifying individuals who may be at increased risk of these conditions, particularly in the context of other risk factors such as smoking, obesity, or a family history of cardiovascular disease. Sample: BLOOD Results:2 weeks Phlebotomy fee: £15 (included in price)