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Homocysteine Mutation (MTHFR, C677T)

MTHFR (methylenetetrahydrofolate reductase) is an enzyme that plays a role in folate metabolism and the conversion of homocysteine to methionine. The MTHFR gene provides instructions for making the MTHFR enzyme. A common genetic variant in the MTHFR gene is the C677T polymorphism, which results in a change in the amino acid sequence of the enzyme. The C677T polymorphism is associated with reduced MTHFR enzyme activity and lower levels of circulating folate. This can lead to elevated levels of homocysteine in the blood, which has been associated with an increased risk of cardiovascular disease, stroke, and other health problems. The presence of the C677T polymorphism may be associated with an increased risk of certain health problems, including cardiovascular disease, stroke, and neural tube defects in infants born to women with the polymorphism. However, it is important to note that the relationship between the polymorphism and these health problems is complex and may be influenced by other factors, such as diet and lifestyle. It is important to discuss any concerns about the C677T polymorphism with a healthcare provider to determine if additional testing or interventions are necessary.

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