MTHFR Gene Mutation (C677T), By PCR, Blood


Methylenetetrahydrofolate reductase (MTHFR) converts dietary folate to its active cofactor in the conversion of homocysteine to methionine. A common mutation in the MTHFR gene at codon 222 resulting in an alanine to valine switch causes a graded elevation in homocysteine in the mild-moderate range. This is most pronounced in individuals with low dietary folate consumption. Individuals with homozygous mutation have 30 percent in vitro MTHFR enzyme activity compared to normal individuals while individuals with a heterozygous mutation have an activity of around 60%. See Also Homocysteine, Serum and Folate (Folic Acid), Serum


MTHFR C677T is considered a genetic risk factor for stroke. Elevation of homocysteine levels is associated with both large and small vessel disease, intra-atrial thrombus in atrial fibrillation, and craniocervical arterial dissection. MTHFR C677T mutation is associated with an increased risk of birth defects, especially neural tube.

Sample Type, Quantity & Conditions

2 ml EDTA Whole Blood Room Temperature

Special Precautions

Collect in EDTA vacutainer tube. Avoid contamination with DNA of phlebotomist. Avoid haemolysed samples. Do not freeze samples. Send tube unopened.

Normal Range


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