MTHFR mutation (C677T, A1298C)

EDTA Blood, 1ml

or buccal swab

MTHFR stands for methylenetetrahydrofolate reductase, which is an enzyme involved in the metabolism of folate (vitamin B9) in the body.
The C677T and A1298C mutations in the MTHFR gene can result in reduced enzyme activity, leading to decreased conversion of the amino acid homocysteine to methionine and reduced production of methylfolate, the active form of folate. This can potentially lead to elevated levels of homocysteine in the blood, which is associated with an increased risk of various health conditions, including cardiovascular disease, venous thromboembolism, recurrent abortion and neural tube defects in newborns.

The decisive factor in the presence of MTHFR mutation(s) is generally the measured homocysteine level in the blood, as this is decisive for the actual increase in the risk of one of the above-mentioned complications.

Note: see also profile 238 Homocysteine level in serum