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Homocysteine Mutation (MTHFR, A1298C)

The MTHFR A1298C mutation involves a change in the gene responsible for producing the enzyme methylenetetrahydrofolate reductase (MTHFR). This enzyme is crucial for processing amino acids, specifically for converting homocysteine into methionine. A mutation in the MTHFR gene can lead to reduced enzyme activity, potentially resulting in elevated levels of homocysteine in the blood. High homocysteine levels are associated with an increased risk of cardiovascular diseases, stroke, and certain complications during pregnancy. Testing for the A1298C mutation can provide valuable insights into personal health risks and guide dietary and medical interventions to manage these risks effectively.

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