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The methylenetetrahydrofolate reductase (MTHFR) mutation test is used to detect two relatively common mutations in the MTHFR gene that are associated with elevated levels of homocysteine in the blood. It is not routinely ordered.
Table 2 - Potential MTHFR variant test results. Remember some results will be completely normal-i.e. no variant found. NTDs are multifactorial conditions. Being homozygous for the C677T variant (TT) has been associated with low red blood cell folate and has been identified as a risk factor for neural tube defects 3.