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What is an MTHFR mutation?

The MTHFR gene provides instructions to produce the MTHFR enzyme. This enzyme is needed to activate folate in the body which is essential for:

  1. Cell division, heart function, DNA synthesis, brain function and memory.
  2. Converting homocysteine into methionine which the body needs for proper metabolism and muscle growth.
  3. The process of methylation which enables the body to detoxify itself.
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An MTHFR gene test will identify a defect in the MTHFR gene which can cause abnormally high levels of homocysteine. Elevated homocysteine is associated with cardiovascular disease, high blood pressure, glaucoma, ischaemic stroke and atherosclerosis. Research also links migraines and depression to inadequate methylation caused by variances in the MTHFR gene.

We can also offer home collection versions of this test which can be ordered online here:

What we test

MTHFR Mutations

Two relatively common DNA sequence variants known as single nucleotide polymorphisms (SNPs) are tested. These two MTHFR variants are called C677T and A1298C and individuals can inherit one or both variants.

This MTHFR gene test measures:

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 slows down the homocysteine conversion process leading to a build-up of homocysteine in the blood.

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 slows down the homocysteine conversion process leading to a build-up of homocysteine in the blood.

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 7-10 days and will be published in your online dashboard.

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