Laboratory Test Detail

Last Updated: December 7, 2021 @ 10:13 am


MTHFR Mutation

  • One Lavender (EDTA)

Also Acceptable:
  • One Pink Top (EDTA)
  • One Royal Blue (EDTA)
  • 4 mL (Min:3 mL) Whole blood in Lavender (EDTA). Submit Refrigerated.

Also Acceptable:
  • 6 mL (Min:3 mL) Whole blood in Pink Top (EDTA). Submit Refrigerated.
  • 6 mL (Min:3 mL) Whole blood in Royal Blue (EDTA). Submit Refrigerated.
Rejection Criteria:
  • Clotted Specimen
  • Shared samples - a separate sample must be collected for molecular testing (Testing for MTHFR, FACTOR V, and PT GENE MUTATION may be performed from same tube).
Stability:Ambient: Unacceptable; Refrigerated: 1 Month(s); Frozen: Unacceptable; Incubated: Unacceptable
  • Polymerase Chain Reaction (PCR)
  • eSensor Technology
Reported:3-8 Day(s)
CPT Codes:
  • 81291
Interpretive Data:Please see report for interpretive data.

Mild to moderate hyperhomocysteinemia was previously thought to be a risk factor for coronary artery disease (CAD) and venous thromboembolism. However, an association between MTHFR variants, hyperhomocysteinemia, and increased risk for thromboembolism is not supported by current literature.
Therefore, the utility of MTHFR variant testing in the evaluation of venous thromboembolism and adverse pregnancy outcome is uncertain and is not recommended by the American College of Medical Genetics and Genomics (ACMG) or the American Congress of Obstetricians and Gynecologists (ACOG).(1)
Increased risk of CAD and venous thromboembolism and increased plasma homocysteine can be caused by a variety of genetic and nongenetic factors not screened for by this assay. If indicated by a personal or family history of thromboembolism, consider additional testing such as plasma homocysteine levels and factor V Leiden and prothrombin gene mutations.
Where appropriate, medical consultation and/or genetic counseling should be offered to patients and family members to inform and explain the risk implications and genetic implications of these test results. Patient DNA is assayed for the MTHFR C677T and MTHFR A1298CA mutations by polymerase chain reaction (PCR) and eSensor technology. The product of PCR is detected on the GenMark XT8 system.
(1)Hickey SE, Curry CJ, Toriello HV. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2013;15:153-156.
  • 2707 - C677T MUTATION
  • 2708 - A1298C MUTATION
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