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About MTHFR

About MTHFR 
(MTHFR = Methylenetetrahydrofolate Reductase)

 

 MTHFR FACT SHEET (PDF)

 

WHAT IS MTHFR?

The MTHFR gene codes an enzyme which changes the vitamin folate (vitamin B9) into a form that the body can use (methyl-folate).  See MTHFR Fact Sheet.

WHEN IS A MTHFR TEST PERFORMED?

There is insufficient evidence to determine the clinical utility of MTHFR testing. 

MTHFR testing attracts a Medicare rebate only if there is a proved DVT/PE or a known mutation in a first degree relative.

See MTHFR Fact sheet

REFERENCES

Human Genetics Society of Australasia: tests, treatments and procedures clinicians and consumers should question

Choosing Wisely. Society of Obstetric Medicine of Australia and New Zealand. 2017. Do not undertake methylenetetrahydrofolate reductase (MTHFR) polymorphism testing as part of a routine evaluation for thrombophilia in pregnancy. https://www.choosingwisely.org.au/recommendations/somanz3

Royal College of Pathologists of Australasia. Position Statement: MTHFR Genetic Tests 2016.  https://www.rcpa.edu.au/Library/College-Policies/Position-Statements/MTHFR-Genetic-Tests

Long S, Goldblatt J. MTHFR genetic testing: Controversy and clinical implications. AFP Vol 45, No 4, April 2016: 237-239 https://www.racgp.org.au/download/Documents/AFP/2016/April/AFP-Professional-Long.pdf

Lab Tests Online MTHFR Mutation https://www.labtestsonline.org.au/learning/test-index/mthfr-mutation

Hickey S, Curry C, Toriello H. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med 2013:15(2):153–156. doi:10.1038/gim.2012.165. https://www.nature.com/articles/gim2012165

Centers for Disease Control and Prevention, MTHFR Gene and Folic Acid https://www.cdc.gov/ncbddd/folicacid/mthfr-gene-and-folic-acid.html (accessed 13 May 2021)

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