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This qualitative test is used to evaluate the cause of elevated homocysteine levels and to determine the risk of thrombosis or premature cardiovascular disease (CVD). MTHFR gene mutations can result in genetic disorders like homocystinuria, spina bifida, anencephaly, and others. Indian studies suggest that an elevated homocysteine level is associated with heterozygosity for MTHFR C677T.
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