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Quest Diagnostics test code 17911 is for a DNA mutation analysis of Methylenetetrahydrofolate Reductase (MTHFR). The test determines if a patient has one, two, or no copies of either of the two mutations in the MTHFR gene, C677T and A1298C. Changes in the methylenetetrahydrofolate reductase gene can lead to certain health conditions. One of them is hyperhomocysteinemia (high blood levels of homocysteine), which is a risk factor for cerebrovascular disease, cerebral vein thrombosis, coronary artery disease, myocardial infarction, and venous thrombosis. At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process certain amino acids properly.
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