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How To Test For MTHFR Mutations | MTHFR Test

How To Test For MTHFR Mutations | MTHFR Test

An MTHFR test indicates a mutation or variation in the MTHFR gene. This particular gene is vital to the processing of proteins responsible for the growth and repair of cells. If your test results show you have an MTHFR deficiency, it may explain why you suffer from certain diseases. More importantly, it may help you come up with proactive measures to prevent and address health issues.

MTHFR Test: How to Find Out Your Genetic Variations!

In this Article:

Genetic Testing

Genetic Testing | How To Test For MTHFR Mutations | MTHFR Test | mthfr gene mutation test cost


You can check your MTHFR status through genetic testing. It’s an accurate way to determine any mutation in your genes, including your predisposition to certain diseases.

Genetic testing requires a blood sample or a small amount of saliva. Health facilities can collect these samples. You can simply send it over to them and wait for the results. Meanwhile, some companies offer to send you a specimen collection kit so you can do your own testing at home.

How much will the testing be? The MTHFR gene mutation test cost varies, depending on the state, insurance coverage, company, or laboratory.

1. Oral Swab Test

  • Other names: buccal swab test
  • Self-collection kits are available.
  • How to get the sample: rub the sterile swab on the inside of your cheek and under the tongue.

2. Dried Spot Blood Test

  • Other names: spot blood testing
  • Self-collection kits are available.
  • How to get the sample: use the lancet or finger-prick in the kit to get blood from your fingertip, then place drops of blood on the collection card.

3. Saliva Test

  • Self-collection kits are available.
  • How to get the sample: use the container provided in the kit to collect around 2mL of saliva.

4. Blood Test

  • Specimen collection kits are available and may be sent to you, but a professional must perform the procedure.
  • How to get the sample: A professional lab draws around 2 to 5mL of sterile blood from you.

Other Tests!

Other Tests | How To Test For MTHFR Mutations | MTHFR Test | mthfr mutation


MTHFR mutation may manifest through different health issues, but the complication stems from a poor methylation process, which affects the processing of amino acids and the production of glutathione. It also leads to vitamin B6, B12, and folate deficiency.

The following laboratory tests may relate to your MTHFR status, based on the effects of MTHFR deficiency on homocysteine, glutathione, and amino acids. Note that other health problems may also affect them aside from MTHFR mutation.

5. Homocysteine Level Testing

  • Increased levels of homocysteine may indicate a deficiency in vitamins B6, B12, and folate.
  • A health practitioner may order this test for people with signs of B vitamins deficiency and are at risk for cardiovascular diseases.
  • Process overview: a professional laboratory collects and analyzes the blood sample; a urine sample is also useful.

6. Glutathione Level Testing

  • Poor glutathione may indicate poor health as an effect of oxidative stress.
  • Process overview: a professional laboratory tests glutathione in plasma and RBC from a whole blood sample.

7. Amino Acid Analysis

  • Increased or decreased levels of certain types of amino acids may indicate an inborn error of metabolism.
  • A health practitioner may request amino acid testing when a patient shows signs of aminoacidopathy.
  • Process overview: a professional laboratory tests the amino acid levels of your blood sample or urine sample.

Learn more about the methylation process in this video by the Garvan Institute of Medical Research:


The results from an MTHFR test don't necessarily determine the nature of your health issues, but they may guide you on what to do to make yourself healthier. For example, you may take B vitamins and glutathione to compensate for your MTHFR deficiency. Work closely with your doctor and come up with the best health strategies possible.

Have you taken the MTHFR test? Let us know in the comments section.

Up Next: MTHFR And Fibromyalgia

DISCLAIMER: These statements have not been evaluated by the Food and Drug Administration. None of the nutritional products mentioned are intended to Diagnose, Treat, Cure or Prevent any Disease.