MTHFR is an enzyme that helps our body convert folate (a B vitamin found in many foods) into a form that can be used to regulate the levels of homocysteine in our blood. Homocysteine is an amino acid that can be harmful to our health when present in high levels. The MTHFR enzyme also plays a role in the production of an important molecule called SAM, which is needed for many biological processes in our body, including the production of neurotransmitters (chemicals that help our brain function).
Genetic variations in the MTHFR gene can result in altered enzyme activity, leading to lower levels of folate and higher levels of homocysteine in the body. MTHFR testing is a simple blood test that can identify genetic variations in the MTHFR gene. Individuals with MTHFR gene variations may benefit from personalised treatment strategies to optimise their folate and homocysteine levels. These strategies may include dietary modifications, supplementation with folic acid or other forms of folate, and medications that lower homocysteine levels.
We can also offer a cheek swab home collection version of this test which can be ordered online - MTHFR Check - cheek swab
What we test
MTHFR Genotyping
MTHFR testing is a simple test that can identify genetic variations in the MTHFR gene. Two common variations in the MTHFR gene are known as C677T and A1298C. The C677T variation results in a reduction in MTHFR enzyme activity, leading to higher levels of homocysteine in the body. The A1298C variation is less well understood but may also result in reduced enzyme activity.
If someone has two copies of the MTHFR C677T, or one copy of C677T and one of A1298C, a decrease in the activity of MTHFR enzyme can slow down the homocysteine conversion process leading to a build-up of homocysteine in the blood.
The A1298C variation is less well understood than the C677T variation, but may also result in reduced MTHFR enzyme activity.
Test instructions
Download and print your pathology form from your i-screen dashboard.
Take your form to one of our affiliated collection centres to have your sample taken.
Results for this test available in 10-12 days and will be published in your online dashboard.
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