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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.

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.

Please note if you are considering the myDNA Comprehensive Health Report or Genetic Methylation Test, this test is covered within that and does not need to be ordered separately.

This MTHFR gene test is a simple cheek swab test which tests for:

MTHFR helps our bodies use folate effectively, but certain genetic differences, like the mutations C677T and A1298C, can slow it down. If someone has two copies of C677T mutation or a mix of one C677T and one A1298C mutation, it slows MTHFR even more, making it harder to convert homocysteine. This could lead to higher homocysteine levels, which might increase the risk of heart problems.

MTHFR helps our bodies use folate effectively, but certain genetic differences, like C677T and A1298C, can slow it down. If someone has two copies of C677T or a mix of C677T and A1298C, it slows MTHFR even more, making it harder to convert homocysteine. This could lead to higher homocysteine levels, which might increase the risk of heart problems.

Test instructions

Your test kit and all instructions are posted directly to you, and there is no need to visit a collection centre.

Results for this test available in 21-24 business days from being received at the lab and will be published in your online dashboard.

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