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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.
1 The MTHFR gene C677T and A1298C polymorphisms were associated with an increased risk of bladder cancer in a Turkish population. 2  Meta-analysis. 3  In the Chinese Han population, the TT genotype for the MTHFR C677T gene appeared to be associated with increased coronary artery disease risk. C677T mutation at the MTHFR gene and deficiencies of folic acid and vitamin B-12 may account for elevation of total homocysteine (tHcy). 2  The variation at MTHFR codon 1298, maybe more important for colon cancer than variation at codon 677.