MTHFR C677T

Posted by siminm @siminm, Aug 10, 2022

Does anyone know what the latest research shows if this test is valid.
I had it done and my levels are normal. I have already other issues with aortic aneurysm and I hope that this one I don't need to keep worrying about. It seems like Cleveland clinic articles show that if your blood test for the levels of Homocysteine are normal, you don't need to do anything... Wondering what Mayo Clinic's findings are.
I see one Lab that has stopped doing the test.

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Hello @siminm and welcome to Mayo Connect. You ask an interesting question about MTHFR C677T. Here is a link to an article from the MedlinePlus website, "MTHFR Mutation Test" https://medlineplus.gov/lab-tests/mthfr-mutation-test/.

You mentioned that this test has been done previously and was normal. Are you having any particular problems that you feel might be related to Homocysteine levels or is there a family history related to this problem?

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Hi @siminm, I would like to add my welcome along with @hopeful33250 and others. I think Mayo Clinic has also stopped using the test. This is from October 2020.

"5,10-Methylenetetrahydrofolate Reductase (MTHFR) C677T,
Mutation, Blood
Test ID: MTHFR
Explanation: This test will become obsolete due to the lack of predictive value for venous thromboembolism
(VTE) or adverse pregnancy outcomes. Testing recommendations for MTHFR mutations have evolved and the
American College of Medical Genetics (ACMG) and American College of Obstetricians and Gynecologists
(ACOG) recommend against testing"
-- https://www.mayocliniclabs.com/test-notifications/attachment.php?id=65107

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