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MTHFR Mutation Analysis

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.