Homocysteine Mutation (MTHFR, C677T)

Service Description

Real-Time PCR: The homocysteine mutation (MTHFR C677T) is a common genetic variation in the MTHFR gene that affects the production of the enzyme methylenetetrahydrofolate reductase (MTHFR). This enzyme plays a crucial role in the metabolism of homocysteine, an amino acid that can be toxic to the body in high levels. The MTHFR C677T mutation results in a reduced activity of the MTHFR enzyme, leading to an accumulation of homocysteine in the blood. 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 C677T mutation, homocysteine levels, and disease risk is complex, and not all individuals with the mutation will develop these conditions. Other factors such as diet, lifestyle, and other genetic and environmental factors may also play a role. Testing for the MTHFR C677T 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)