MTHFR MUTATIONS

Overview

Homozygous mutation for MTHFR (Methylenetetrahydrofolate reductase) is associated with Hyperhomocysteinemia which is an independent risk factor for stroke, MI, peripheral arterial disease and venous thrombosis. Indian studies suggest that heterozygosity for MTHFR C677T is also associated with elevated homocysteine levels. This assay detects both C677T and A1298C mutation.