Can someone please help explain these DNA results to me? Two copies of the same mutation (A1298C/A1298C) identified Interpretation: This patients sample was analyzed for the MTHFR mutations C677T and A1298C. Two copies of the A1298C mutation were identified. Results for the C677T mutation were negative. Elevated homocysteine levels have not been reported when two copies of the A1298C mutation have been found. The diagnosis of hyperhomocysteinemia can not rely on DNA testing alone but should take into consideration clinical findings and other studies, such as serum homocysteine levels. Because MTHFR mutations and their associated risks are inherited, genetic counseling and testing of at-risk family members should be considered.
Posted on: Sun, 23 Nov 2014 23:28:51 +0000
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