Search
Close this search box.

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.

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.
Laboratory Developed Test (LDT). This test was developed and its performance characteristics determined by Interpath Laboratory in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Components

  • 2707 - C677T MUTATION
  • 2708 - A1298C MUTATION
Last Updated: October 10, 2024 @ 9:13 am

Disclaimer:

It is preferable to locate tests on the website and not rely on printed test information, which may soon be out of date.
Updated test information can only be guaranteed by using this website.

Choose the Right Test

ARUP Consult® assists with test selection and interpretation

How to Label Your Sample

  • Label Your Test 1
  • Label Your Test 2
  • Label Your Test 3
  • Label Your Test 4
  • Label Your Test 5

Common Test Phrases

  • Label Your Test 1
  • Label Your Test 2
  • Label Your Test 3
  • Label Your Test 4
  • Label Your Test 5

Common Lab Definitions

  • Serum 
  • Plasma 
  • STT