Test Method

Molecular

CPT Codes

81291


Test Description

The methylenetetrahydrofolate test (MTHFR) is often used to detect two relatively common mutations in the MTHFR gene that are associated with elevated levels of homocysteine. MTHFR C677T and A1298C gene mutations.

Specimen Requirements

  • Bone marrow aspirate: 1-2 mL in EDTA tube (purple top) preferred; ACD (yellow top) acceptable
  • Peripheral blood: 5-10 mL in EDTA tube (purple top) preferred; ACD (yellow top) acceptable
  • Fresh Tissue: Minimum of 250 mg tissue in RPMI transport media
  • Formalin-Fixed Paraffin-Embedded Tissue: 1 H&E slide and 6-8 unstained slides, 5-7 microns of BM clot or tissue fixed with 10% NBF fixative. Please circle tumor for microdissection. alternatively, the FFPE clock of the BM clot can be sent for sectioning in our lab

Storage & Transport

Ship specimen the same day whenever possible, with refrigerated (not frozen) cold pack.

Label all tubes with at least two unique patient identifiers. Slides require one patient identifier. Identifiers include name, DOB, specimen ID# or medical record#.

Turnaround time

5 - 7 days

Level of Service

Global