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MTHFR Testing and Results – What Does This Mean?

Not everyone who suspects they might have a mutation needs to test. Also, for some poeple with health-related anxiety, testing might actually increase anxiety without giving you positive benefits.

You can boost your nutritional status and your methylated folate without testing, and essentially act as though you have an MTHFR mutation, know you’re doing everything possible to mitigate symptoms and risks, without actually knowing your genes. If you’re ready to get started on that, then check out our Start Here for MTHFR page.

You can boost your nutritional status and optimize your methylation without testing for MTHFR. The only people who really need testing are people who suspect MTHFR issues who are trying to have a baby, and people with treatment-resistant anxiety or depression.

– Amy Neuzil,

In some circumstances, your doctor will order testing, but it is usually done outside of your insured health care providers, so the bottom line here is, is it worth it to pay for this?

When Will My Doctor Order MTHFR Testing?

Typically, doctors do not test for this because technically there isn’t an approved treatment, which is inconvenient. There are a few exceptions to that rule:

  • Situations involving abnormal clotting without documented causal diagnoses, although the American College of Medical Genetics is now discouraging this.
  • Fertility situations involving repeat miscarriages, repeat late-term miscarriages, repeat stillbirths, or neural tube defects such as spina bifida.
  • In some treatment situations because MTHFR can cause differences in the way people react to certain pharmaceutical agents. Notably, the most commonly used drug for rheumatoid arthritis, which is methotrexate, and the chemotherapeutic agent FOLFOX, which is a combination of Fluorouracil (FU) and oxaliplatin.
  • In some cases of high homocysteine levels, especially with a family history of early heart disease.

Some doctors will also order testing if a patient requests it, but many will not because typically it is outside of their usual scope of practice and they would have a hard time justifying it to insurance.

When Is It Worth Paying for MTHFR Testing?

Since testing is expensive and supplementation for suspected MTHFR issues isn’t, it doesn’t always make sense for people to test. Here are some situations in which you might want to consider it:

  • Fertility – If you are trying to get pregnant and you and/or your partner have either multiple personal or family history factors that are suspicious for MTHFR, you’ve had repeat miscarriages, a previous baby with a neural tube defect, or some combination of these.
  • Treatment-resistant anxiety or depression – if you’ve tried everything your doctor has given you and haven’t seen good results, especially if there is similar anxiety or depression in genetically related family members.
  • Geekery – because you geek out on information and you just like to know.

How Can I Test for MTHFR?

There are a number of tests that you can order for yourself at home.

  • 23andme: By far the best for general geekery, this test is for your genetics as a whole and also has ancestry information, health reports and heaps of random, but fun information like how likely you are to get bitten by mosquitoes relative to the people around you, and what percentage of your DNA came from Neanderthals. The cost today is $199 USD and $117 of that can be paid by an FSA or HSA if you’re in the U.S. This test doesn’t give MTHFR results directly, so you have to download your data and run it through a processor. There are bunches of different processors, but the one I like best is from Genetic Genie here. They do ask for a small donation.
  • MTHFR doctors: This is a simple C677T and A1298C test for $129 USD. You can also add a related gene, called COMT.

Again, use your best judgement if you’re exploring testing. For some people, like myself, who thrive on information, testing is a boon. For others, it just adds to the anxiety burden. Remember, you can address these issues without knowing for sure whether or not you have them.

I Tested, I Got My Results, And They’re Gibberish! Now What?

Right – so reading results isn’t always easy. First, if you opt for the 23andme option, you won’t directly see MTHFR results listed. You do have to run them through some kind of a processor, like genetic genie (their “Methylation Profile”), in order to see MTHFR. Here’s an example:

MTHFR testing: Sample results
This is a sample of what a Genetic Genie Methylation profile looks like. Also, part of the reason why MTHFR testing can be a little bit anxiety-inducing.

I love the way Genetic Genie uses the stoplight-type coding to give you a quick idea of what is going on. Remember for each gene, you have two copies. One from your mom and one from your dad. Results are reported in a positive or negative (+ or -), backslash, positive or negative (+ or -) format. Here’s the code:

MTHFR testing results explained
This is the results from Genetic Genie, who use the helpful color coding. Other companies will use the positive and negative symbols the same way.

My Doctor Gave Me Results in Words? I’m Stumped!

The words around this can be really confusing. Here’s the breakdown:

Hetero = Different, so heterozygous means one good and one bad copy.

Homo = Same, so homozygous means two bad copies because nobody is concerned about the good ones.

Wild type = the typical version of this gene, meaning no bad copies.

MTHFR testing and results
The MTHFR stoplight, with the confusing terminology to go with it.

Now, when you get your results, you will know what all of those infuriating little plus and minus symbols mean. Also, you’ll notice that the methylation panel shown above tests a third MTHFR polymorphism, called MTHFR 03 P39P. It isn’t one I discuss at length because so far, the research doesn’t show any significant compromise for polymorphisms, nor does it show any significant health correlations.

Fun Genetic Fact Unrelated to MTHFR

According to this fascinating article on, the DNA packed into your body could stretch to the sun and back, 61 times.

  • Each cell has approx. 6 feet of DNA spooled up inside of it.
  • Each human has, conservatively 10 trillion cells.
  • If you do the math, that means 60 billion feet or roughly 10 billion miles of DNA inside of each and every person.
  • The sun is 93 million miles from earth.
  • Your DNA could stretch there and back roughly 61 times.
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MTHFR is a common genetic mutation that can contribute to anxiety, depression, fatigue, chronic pain, infertility, and more serious conditions like breast implant illness, heart attack, stroke, chronic fatigue syndrome, and some types of cancer. If you know or suspect you have an MTHFR variant, schedule a free 15-minute meet-and-greet appointment with MTHFR expert Dr. Amy today.

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Amy Neuzil
Amy Neuzil

Dr. Amy Neuzil, N.D. is a leading expert in MTHFR and epigenetics, and she is passionate about helping people achieve optimal health and wellness for their genetic picture. She has helped thousands of people overcome health challenges using a simple, step-by-step approach that starts with where they are today. Dr. Neuzil's unique approach to wellness has helped countless people improve their energy levels, lose weight, and feel better mentally and emotionally. If you're looking for a way to feel your best, Dr. Amy Neuzil can help. Contact her today to learn more about how she can help you achieve optimal health and wellness.

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  1. Hello! Thank you so much for all this information- it is amazing! So I just want to clarify because I have 2 gene mutations and the doctor said I have hetero copies of C677T AND A1298C so does that mean one of them is a good copy and one of them is a bad copy? Thanks so much!

    • Hi Marie,
      Yes – you’re exactly right. So for C677T you have one good copy and one bad copy, and for A1298C you have one good copy and one bad copy. It’s the same mutation I have. 🙂

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