MTHFR Gene Mutation Test

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.

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.

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.

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).

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.

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.

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.