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Laboratory Test Directory

MTHFR Polymorphism Analysis (C677T & A1298C)

Components

Name Method Department Units
MTHFR Polymorphism Analysis (C677T & A1298C) Polymerase chain reaction (PCR)
DNA extraction
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

3 mL 3 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze

Reasons for Rejection

  • Wrong collection tube
  • Clotted specimen
  • Frozen specimen
  • Centrifuged specimen

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended.

This assay evaluates for two common variants, c.665C>T and c.1286A>C (also known as C677T and A1286T), in the MTHFR gene. These two variants in the MTHFR gene correlate with reduced MTHFR enzyme activity; however, only homozygotes for the c.665C>T variant have been significantly associated with elevated plasma homocysteine levels (hyperhomocysteinemia) and with an increased risk for premature cardiovascular disease. These individuals may also show toxicity from medications (i.e., methotrexate) that affect folate metabolism.

If ordered with Factor II and/or Factor V Mutation Analyses (test code: F52MUT), all ordered tests can be performed on the same EDTA blood sample. It is NOT necessary to collect additional tube for each additional gene analysis.

Forms

Lab Form

CPT Code

  • 81291 (x2)