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MTHFR Testing for Folate Deficiency

Folate deficient? This test screens for the two most common MTHFR gene mutations that can be involved in reduced folate metabolism and/or elevated blood homocysteine levels.

Postal and Delivery times are constantly changing. Whilst every effort is made to reduce time where possible this cannot always be achieved due to actions outside our control. The times quoted are from the time the final sample is received.

What is MTHFR?

MTHFR is a gene that carry instructions for making an enzyme called MethyleneTetraHydroFolate Reductase. This enzyme is an important team player in the proper transformation of folate (also known as vitamin B9 or Folic acid) into a more usable form for our bodies. The enzyme together with folate, is also involved in the recycling of a chemical called homocysteine into methionine, which is a vital component in some of our proteins and needed for growth and metabolism. If the MTHFR-enzyme does not work as effective as it should this might lead to decreased levels of folate and/or increased levels of homocysteine in the blood. Other important B-vitamins involved in the folate and homocysteine transformations includes vitamin B12, vitamin B6, and vitamin B2, all playing their own key role in the processing cycles.

Risk factors

Some studies have suggested that elevated homocysteine levels may be associated with an increased risk of developing cardiovascular diseases. Scientists have also found that elevated levels of homocysteine in the blood may also be linked to B12 deficiency.

B-vitamins are vital for our normal every-day functioning. Not only for the proper recycling of homocysteine into methionine, as mentioned above, but all sorts of biochemical reactions, such as reactions behind normal functioning of the nervous system, blood cell formation and brain development. Folate is also essential for healthy development of the fetus in the early stages of pregnancy, especially in the formation of the neural tube, which is also the reason why pregnant women are commonly recommended to take folic acid supplements as a mean to reduce the risk of neural tube defects during fetal development.

How does the test work?

The mutations that are screened for in our MTHFR-test are called C677T and A1298C, which are the most common MTHFR mutations and the ones that are typically tested for.

Having one or both of these mutations have been associated with a less active form of the enzyme and may reduce a person’s ability to metabolise folate, which in turn might lead to decreased levels of folate and/or increased levels homocysteine in the blood. Women with two copies of the C677T mutation gene variant tend to be slightly more susceptible to having babies with neural tube defects.

Who should get tested?


  • When your healthcare provider suspects that you have a folate or vitamin B12 deficiency and/or elevated homocysteine levels.
  • If you have any close relatives with known MTHFR genetic mutations.
  • (Women who previously have had a child with neural tube defects.)
  • If you have a family history of neural tube defects.
  • If you have a family history of the inherited disorder


Your report will state whether you are positive or negative for the mutations tested, along with an interpretation of the results.

The results can be used to help provide possible explanations for folate or vitamin B12-deficiency.

This test can also be used to aid in diagnosis of Homocystinuria, a rare inherited disorder commonly manifested as underweight during childhood.

Note: Your only additional cost will be the blood collection fee that should be arranged with the sample collector during your pathology appointment.