MTHFR C677T Gene Mutation by PCR
Short Name: MTHFRSample required: EDTA Whole BloodResult Time: 3 Days Methylene tetrahydrofolate reductase (MTHFR) is one of the enzymes involved in the metabolism of the sulfur-containing amino acid, homocysteine. A specific point mutation (C677T) in the MTHFR gene gives rise to a heat-sensitive enzyme with reduced activity. Patients with this deficiency present with homocysteinuria and
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