- OHSU Service Code:
- 102-8806
- Lab Section:
- Molecular Diagnostic Center
- Synonyms:
- Homocysteine, DNA Test; Methylene Tetrahydrofolate Reductase
- Specimen
Requirements:
- 6.0 mL whole blood in EDTA vacutainer tube. For requisition slips.
- Reference Range:
- No mutation
- Critical Values:
- Heterozygous or homozygous mutation
- Comments:
- Direct detection (by PCR) of a common thermolabile variant of the MTHFR gene at nucleotide 677. The mutation in the gene predisposes to increased homocysteine levels and vascular disease.