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Laboratory Test Detail

Last Updated: December 9, 2023 @ 10:13 am

2699

MTHFR Mutation

Specimen:Collect:
  • One Lavender (EDTA)

Also Acceptable:
  • One Pink Top (EDTA)
Submit:
  • 4 mL (Min:2 mL) Whole blood in Lavender (EDTA). Submit Refrigerated.

Also Acceptable:
  • 6 mL (Min:2 mL) Whole blood in Pink Top (EDTA). Submit Refrigerated.
Special Handling:
  • Variant analyzed: c.665C>T (p. Ala222Val), previously referred to as C677T.
    Variant analyzed: c.1286A>C (p. Glu429Ala), previously referred to as A1298C.
Rejection Criteria:
  • 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
Methodology:
  • Mass Spectrometry Coupled with End-Point PCR
Performed:Wednesday
Reported:1-7 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 A1298C mutations by polymerase chain reaction (PCR) and MOLDI-TOF mass spectrometry technology. The product of PCR is detected on the Agena Bioscience MassARRAY system.
(1)Hickey SE, Curry CJ, Toriello HV. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2013;15:153-156.
Variant analyzed: c.665C>T (p. Ala222Val), previously referred to as C677T.
Variant analyzed: c.1286A>C (p. Glu429Ala), previously referred to as A1298C.
Components:
  • 2707 - C677T MUTATION
  • 2708 - A1298C MUTATION
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