MTHFR Gene Mutation Test
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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- Homocysteine blood tests
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)
- At-home genetic testing for MTHFR mutations (saliva sample, cheek swab, or a finger prick).
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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.
Understanding MTHFR test results
A MTHFR test will usually detect the presence of the two most common MTHFR gene mutations, C677T (also referred to as 665) and A1298C. You can have one or both of these mutations. Saliva tests may also detect other SNPs (single nucleotide polymorphisms) that are also involved in methylation and the production of neurotransmitters. This information can provide a more comprehensive picture of your health status.
Test results will be either positive or negative, and will show which mutations or SNPs you have.
- Positive MTHFR result
A positive result means that you have a MTHFR mutation. The result will show which mutation(s) you have, and whether these mutations are heterozygous (one copy) or homozygous (two copies).
- Negative MTHFR result
A negative result means your test result shows you have no MTHFR mutation on either the 1298 or 677 SNP.
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.
