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MTHFR Gene Mutation Test

Why, how and where to get tested for MTHFR

If you suspect you have an MTHFR genetic mutation, the best way to confirm this is with a MTHFR gene mutation test.

Should you get tested for MTHFR?

Many sources claim that it’s not necessary to get tested for MTHFR, but there are a few reasons that it can be beneficial. MTHFR testing can provide valuable information about your risks for nutritional deficiencies, elevated homocysteine, mental health disorders, and other conditions. A doctor may recommend an MTHFR test if you already have high homocysteine levels, as your treatment may need to take this into account.


You may also want an MTHFR test result if you or your family members have a history of high homocysteine or cardiovascular conditions. You should also have an MTHFR test if you have family members dealing with depression, mental health issues, or blood vessel disorders. Those who are considering starting a family are also encouraged to get an MTHFR test to check for a variety of reproductive health issues. Folate plays a critical role in fetal development during pregnancy, and folic acid is often prescribed to women who are pregnant. However, a MTHFR mutation will mean folic acid is not properly metabolized in the body, which could affect the baby’s development.1 Women who have had unexplained miscarriages should also undergo MTHFR testing, as the mutation is associated with pregnancy loss.

There are several types of MTHFR tests available.

Homocysteine blood tests

These blood tests measure homocysteine levels in blood and screen for deficiency of folate and/or Vitamin B12. The test may also screen for the risk of heart attack, stroke, and homocystinuria. Costs range from $68-$79, depending on the clinic, and is often covered by insurance. Test results are available within 1-5 days. You will need to fast for at least 10 to 12 hours before the test. You may also have to stop certain medications or supplements as they can influence homocysteine levels and contribute to an inaccurate test result.

Genetic testing for MTHFR in a lab (blood test)

A nurse or phlebotomist takes a blood sample from a vein in your arm using a small needle and sends it to a lab. This test may be covered by health insurance. It’s important to note that the test will only be for the MTHFR gene and not the many related genes that might provide a more accurate picture of your genetic makeup.

At-home genetic testing for MTHFR mutations (saliva sample, cheek swab, or a finger prick).

DIY tests for MTHFR can be ordered online and completed at home.
There are many tests now available, but some good options include:
⇒ 23andMe (~$200): Saliva test that provides genetic ancestry and additional information. Results take 6-8 weeks.
⇒ MTHFR Gene Test Kit/Methylation Test ($~100): Swab test (from inside of cheeks) to check for MTHFR genes. Samples can be done at home and results take 1-2 weeks, depending on the provider. Some companies also offer live phone support for results interpretation and guidance.
⇒ Dr. Amy Yasko’s DNA Nutrigenomic Buccal Swab Test ($495): Detects the MTHFR mutation along with 29 other key health-related SNPs. This pricing also gets you a vast amount of per-SNP ‘nutritional therapy’ information from Dr. Yasko, as well as access to support forums. Dr. Yasko has focused her work on how genetics impact autism. Results take 5-7 weeks.

Frequently Asked Questions about MTHFR Tests

How do I know if I have MTHFR?

The only way to know for certain if you have an MTHFR genetic mutation is to be tested. An MTHFR test will show whether you have an MTHFR mutation, the type of mutation (C677T or A1298C, or both) and whether you have one or two copies of each (heterozygous or homozygous).

How do you test for MTHFR gene mutation?

Testing for MTHFR can be done by a doctor with a blood test, or at home with a kit that you can order. At-home genetic testing for MTHFR mutations usually involves a saliva sample, a cheek swab, or a finger-prick blood drop test.

Is the MTHFR test worth it?

For people at risk for health conditions caused by high homocysteine levels, an MTHFR test is highly recommended. People with mental health disorders such as depression or schizophrenia are also advised to be tested. In both cases, knowing whether you have an MTHFR genetic mutation can play an important role in your treatment plan. Women who are pregnant or planning to conceive may also benefit from knowing their genetic makeup, especially in regards to their folate metabolism. Folate plays a critical role in fetal development during pregnancy, and women who are pregnant are most often prescribed folic acid. However, women with an MTHFR mutation are unable to process folic acid properly.

Can my doctor test me for MTHFR?

Yes, your doctor can order a blood test for MTHFR. Healthcare providers may request a test as a follow-up to an elevated homocysteine test or after fertility and pregnancy complications such as miscarriages. It may also be ordered if you have a risk of cardiac issues or close relatives with known MTHFR genetic mutations.

MTHFR Testing | Key takeaways

A MTHFR test can determine whether you have a MTHFR genetic mutation.
MTHFR tests can be ordered and carried out by your healthcare provider
You can also test yourself at home with a DIY test kit

References

  1. Ting Pi, Yue-qin Liang, Hong-ying Xia, Yan-qiu Liu, Li-na You, Zhuo Zhu, Li Wang, Xi Gu, Xing-fang Jin; "Prevalence of the methylenetetrahydrofolate reductase 677C>T polymorphism in the pregnant women of Yunnan Province, China"; Medicine; 2020 Nov

    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7647581/

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