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Methylene Tetrahydrofolate Reductase, thermolabile

Important Note

Analysis of the MTHFR gene for variants c.677C>T & c.1298A>C is no longer offered at Seattle Children's.  

Our Laboratory Test Utilization Management Team has determined that there is no proven, evidence-based clinical utility for this test for thrombophilia evaluation or other clinical indications.

Sample Requirements

Phlebotomists: Do not collect blood for MTHFR

Notify ordering provider that this test is no longer available at Seattle Children's and we do not send this test out to other reference laboratories. Our Laboratory Test Utilization Management Team has determined that there is no proven, evidence-based clinical utility for this test for thrombophilia evaluation or other clinical indications.

 

If a provider wishes to discuss MTHFR polymorphism testing further, a Laboratory Genetic Counselor may be reached through Lab Client Services at 206-987-2617 or LabGC@seattlechildrens.org.

Clinical Utility

 

Analysis of the MTHFR gene for variants c.677C>T & c.1298A>C is no longer offered at Seattle Children's.  

 

MTHFR polymorphism testing should not be ordered as part of the clinical evaluation for thrombophilia. It was previously hypothesized that reduced enzyme activity of MTHFR led to mild hyperhomocysteinemia which led to an increased risk for venous thromboembolism, coronary heart disease, and recurrent pregnancy loss. Recent meta-analyses have disproven an association between hyperhomocysteinemia and risk for coronary heart disease and between MTHFR polymorphism status and risk for venous thromboembolism.  (American College of Medical Genetics and Genomics Practice Guideline: lack of evidence for MTHFR polymorphism testing, Genet Med 2013:15(2):153–156 ) https://www.acmg.net/docs/MTHFR_gim2012165a_Feb2013.pdf

 

Seattle Children’s does not offer MTHFR polymorphism testing for thrombophilia evaluation or other clinical indications.

 

Seattle Children’s does not send MTHFR polymorphism testing out to other reference laboratories because we do not perform third party billing for tests that are not clinically indicated. 

 

If a provider wishes to discuss MTHFR testing further, a Laboratory Genetic Counselor may be reached through Lab Client Services at 206-987-2617 or LabGC@seattlechildrens.org.