| Description: |
METHYLENETETRAHYDROFOLATE REDUCTASE, 677C>T and 1298A>C
The enzyme methylenetetrahydrofolate reductase (MTHFR) plays a critical role in homocysteine metabolism. Two common MTHFR polymorphisms result in decreased enzyme activity which may lead to hyperhomocysteinemia, particularly in the setting of folate deficiency. The laboratory offers testing for two variants, the 677C>T substitution and 1298A>C substitution. Individuals homozygous for the 677 variant or with compound heterozygosity for the 677 and 1298 variants may be at highest risk. Mutation detection is performed by real-time PCR and target-specific probe dissociation analysis. |
