Test Entry - Detail

Methylene Tetrahydrofolate Reductase Genotyping


General
  Clinical Use: The Royal College of Pathologists of Australasia considers that there is insufficient evidence of benefit to recommend MTHFR testing as a basis for medical decision-making, in patients who receive a normal, folate-fortified diet. Please refer to full statement in hyperlink below.
Additionally, multiple guidelines from professional societies (American College of Medical Genetics, British Society of Haematology, Society for Maternal-Fetal Medicine etc.), do not recommend MTHFR testing for the evaluation of thrombosis.
A call to action: MTHFR polymorphisms should not be a part of inherited thrombophilia testing .
  Availability: Sample collection or sample send-away is not facilitated by PathWest.
Given the lack of evidence of clinical utility, and the recommendations by professional societies, this test is not performed by PathWest. Additionally, PathWest does not facilitate the send-away of samples collected for this test.
  Aliases/Synonyms: MTHFR,   MTHFR C677T Mutation ,  
  Code:
  Handling Instructions (to laboratory): Please do not collect a sample for this test.
  Hyperlink: https://www.rcpa.edu.au/Library/College-Policies/Position-Statements/MTHFR-Genetic-Tests
  Reference Interval:

    


Collection Requirements
  Container:
  Sample Type:
  Minimum Collection Volume:
  Collection Instructions: Please do not collect a sample for this test.


Processing Requirements
  Alternate Containers:
  Processing Instructions: Please do not collect a sample for this test.
  Minimum Assay Volume:
  Stability:
  Transport Instructions (to testing laboratory): Please do not collect a sample for this test.


Testing Locations
  Performed at:
Section Department Site Contact Phone


Last Updated : 15-05-2025 13:18