MTHFR Gene Test

What is MTHFR?

The MTHFR gene, technically called Methylenetetrahydrofolate Reductase, is a key enzyme required to metabolise homocysteine.

Genetic testing is now available to test for specific defects in the methlyation pathway of folic acid conversion - defects in this process have been associated with Austism, Depression, Cancer, CVD, Infertility and the metabolism of fats associated with obesity and cholesterol problems.

Mutations of MTHFR can cause high blood levels of homocysteine.

Why Test for MTHFR?

In some people, there are increased risks associated with this gene mutation.

High homocysteine levels in the blood have also been associated with:

  • Neural tube defects
  • Recurrent miscarriage
  • Autism Spectrum Disorders
  • Stillbirths
  • Depression and other mood disorders

The major cause of high homocysteine levels is folate deficiency. Other factors include insufficient vitamin B12 and genetic mutations in the MTHFR gene.