MTHFR C677T/A1298C Mutations Detection

MTHFR, or methylenetetrahydrofolate reductase, is an enzyme that plays a critical role in converting folate (vitamin B9) into its active form, which is necessary for proper DNA synthesis, methylation, and homocysteine metabolism. Mutations in the MTHFR gene, particularly C677T and A1298C, can reduce enzyme activity and disrupt these processes, potentially leading to elevated homocysteine levels in the blood. Elevated homocysteine is associated with an increased risk of cardiovascular diseases, pregnancy complications, and certain neurological conditions.

The MTHFR C677T/A1298C Mutations Detection test identifies genetic variations that affect folate processing and homocysteine levels, helping assess risks for cardiovascular issues, blood clots, and pregnancy complications.

This test is recommended if there are symptoms suggestive of hyperhomocysteinemia, recurrent pregnancy loss, a family history of cardiovascular disease, or unexplained blood clotting issues. It is also used to assess genetic predisposition in individuals with a history of stroke, heart attack, or vascular abnormalities. In addition, this test may be considered before or during pregnancy to guide folate supplementation and reduce the risk of neural tube defects in the fetus.

No special preparation is needed for getting the MTHFR C677T/A1298C Mutations Detection test done. However, it is preferred that you share your clinical history, current medications, and supplement use with your doctor before giving the sample, as these may influence the results.

Test result ranges are approximate and may differ slightly between labs depending on the methodology and laboratory guidelines. Do not self-medicate and always consult a doctor to understand the test results correctly. 

Please note: This is an outsourced test. The sample is collected by TATA 1MG and processed at a NABL accredited partnered lab.