How to Know if You Have the MTHFR Gene Defect

How to Know if You Have the MTHFR Gene Defect
How to Know if You Have the MTHFR Gene Defect

Knowing whether you have any type of MTHFR gene mutation can be helpful because it could explain why you are experiencing certain symptoms or health challenges, including those that may be baffling you and your doctor; and it can alert you to the potential for health problems so you can take appropriate steps to safeguard your well-being.

We previously talked about the MTHFR gene and how about 40 percent of the population has defects in this gene. MTHFR (methyltetrahydrofolate reductase) is an enzyme that is necessary for the process of methylation to take place and convert folic acid into a bioactive form. If this transformation doesn’t occur, the impact on health can be significant and wide-ranging. So far, experts have identified more than 50 variants of MTHFR mutations (aka, gene defects), but the main ones are called C677T and A1298.

It is especially important for women of childbearing age to know if they have MTHFR gene mutations because a defect can increase the risk of health problems in an unborn child, such as spina bifida.

Genetic testing key to identification

Testing for the gene involves providing a small blood or saliva sample for analysis. In most states, people can choose their own testing lab and no prescription is necessary. However, in a few states the law requires you to see a doctor and have a prescription written for the test.

If you live in a state that doesn’t require a doctor’s note, there are currently two nonprescription testing services available:

Dr. Amy Yasko’s Nutrigenomic Testing. This testing procedure looks for 30 different single nucleotide polymorphisms (SNPs), or gene mutations, and costs about $495. The test focuses on key SNPs that regulate inflammation and associated conditions.

23andMe. This testing service utilizes saliva for analysis and is less expensive than the Yasko method ($199) and provides information on 25 SNPs rather than 30. You will receive raw data on your genes, which you can download to the 23andMe website to identify which MTHFR mutations you may have.

If you are required by your state to get a prescription for genetic testing or you want additional testing options, you can get tested by Quest Diagnostics of LabCorp, both of which have labs across the country.

Finding MTHFR experts and analysis

We highly recommend you work with an expert who is familiar with MTHFR mutations. A knowledgeable practitioner can help you interpret your findings and also make recommendations based on your results.

The websites and are great resources to learn more about MTFR mutations, including where to find an MTHFR expert near you and how to interpret the raw data you get from genetic testing services. Another website that provides practitioner locating services is

Once a practitioner explains the findings to you, an effective plan of action can be drawn up. What are some of the findings a practitioner may uncover in your test results?

A gene mutation in either of the most common variants, C677T variant or 1298C, can be associated with a number of chronic illnesses. The 677T variant, for example, is typically associated with stroke and early heart disease, but either mutation can cause numerous health challenges.

MTHFR mutations can be either heterozygous or homozygous. If your doctor reports that you are heterozygous, you have one normal gene and one mutated gene, and your enzyme will operate at about 60 percent of its capacity. If your doctor reports you are homozygous, you have two abnormal genes, which pushes your enzyme efficiency down to 10 percent to 20 percent of normal. The worst case scenario is to be heterozygous to both C677T and 1298C, which is linked to many serious chronic illnesses.

Conditions associated with MTHFR gene mutations

If you or a loved one has any of the following health conditions, there is a strong possibility they are associated with MTHFR gene mutations. It may be time to get tested, consult an MTHFR practitioner, and learn which changes you can make to your lifestyle that can improve your life. We will also be exploring how to live with MTHFR gene mutations in upcoming articles.

MTHFR mutations may be associated with addictions (drugs, alcohol, smoking), Alzheimer’s disease, anxiety and depression, atherosclerosis, autism, bipolar disorder, blood clots, breast cancer, chemical sensitivities, chronic fatigue syndrome, Down’s syndrome, infertility (male and female), irritable bowel syndrome, migraines, miscarriages, multiple sclerosis, Parkinson’s disease, and stroke, among others.


Carnahan J MD. MTHFR gene mutation-What’s the big deal about methylation? 2013 June 12

Methyl life. Get tested for MTHFR.

Wellness Mama. What is an MTHFR mutation? 2017 Sept 6


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Deborah is a freelance health writer who is passionate about animals and the environment. She has authored, co-authored, and written more than 50 books and thousands of articles on a wide range of topics. Currently, she lives in Tucson, Arizona.