MTHFR C677T/A1298C Mutations

MTHFR C677T/A1298C Mutations test is used to look for the two most common MTHFR changes called C677T and A1298C. It's possible to have one or both of these gene changes without having any health problems. This test may be done alone or along with other genetic tests.

The test may be used to determine if a common MTHFR gene change is causing increased homocysteine in your blood and estimate the risk of developing blood clots or early heart or blood vessel disease. High levels of homocysteine in both blood and urine cause a serious disease called homocystinuria. Symptoms usually show up in the first year of life. In mild cases, symptoms may not appear until childhood or later. In the U.S., most newborns have a routine screening test to check for signs of homocystinuria. The test may be ordered if your blood test shows higher than normal levels of homocysteine, a close relative was diagnosed with an MTHFR gene change, or if there is a family history of early heart or blood vessel disease.

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