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MTHFR Gene Test


What if we could predict heart disease or prevent a stroke?

Genetic mutations in MTHFR are the most commonly known inherited risk factor for elevated homocysteine levels, cardiovascular disease, stroke, Type 2 diabetes, obesity and depression.

The Emed MTHFR Gene Test will help you manage your health and prevent cardiovascular disease in the future.

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Product Description

The MTHFR gene, technically referred to as Methylenetetrahydrofolate reductase, is a key enzyme required to metabolise homocysteine.

Mutations of the MTHFR gene may cause elevated blood levels of homocysteine.

The most common mutation in the MTHFR gene is called C677T. Individuals with two copies of this mutation, i.e. one inherited from their mother and one from their father, are called homozygotes.

This occurs in 5-10% of the population and these individuals are predisposed to developing high blood levels of homocysteine, particularly when their diets are low in folate.

A second mutation in the MTHFR gene, called A1298C, has also been implicated in high blood levels of homocysteine when found in conjunction with the C677T mutation.


High blood levels of homocysteine are recognised as a risk factor for:

  • Coronary artery disease
  • Venous thrombosis & stroke
  • Type 2 diabetes
  • Obesity


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

  • Neural tube defects
  • Recurrent miscarriage
  • Autism spectrum disorders
  • Stillbirths
  • Depression & other mood disorders

The main causes of high homocysteine levels are folate deficiency, insufficient B12 and genetic mutations in the MTHFR gene.

To find out more about the MTHFR gene click here.


Specimen Collection

This is a buccal swab test – a pathology test kit will be posted to you and they samples can be taken in the comfort of your own home.

Simply take the swab sample, place it in the envelope and pop in the the post box. The test kit contains full instructions.


Patient Preparation

Swab specimens should be collected in the morning before eating or drinking.


Test Turnaround Time

The standard turnaround time for this test is 7 – 10 working days from the date the patient’s specimen/s are received by HealthScope laboratory.


What does the cost cover?

The Emed website cost covers the processing of all information, samples and the interpretation and collation of final results into your personalised comprehensive report.


Like to Know More?

If you would like to know more about Emed MTHFR Gene Testing please contact your Emed practitioner today.


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