MTHFR Mutation
 
 

MTHFR Mutation

Test name:
Methylene tetrahydrofolatereductase (MTHFR) mutation

Order name:
MTHFR RFLX

Specimen requirements:
EDTA Peripheral blood

Minimum volume:
0.5 mL

Storage and stability information:
Room temperature – 1 week

Test performed:
Once per week

Methodology:
PCR, Invader assay

Reference range:
NEGATIVE for the MTHFR C677T mutation

Clinical significance:
The MTHFR gene is involved in the regulation of methylenetetrahydrofolate metabolism and mutations within this gene are associated with reduced enzyme activity. This assay detects the MTHFR C677T and A1298C mutations. Carriers of two copies of the C677T mutation or carriers of one copy of the C677T and one copy of the A1298C mutation have significantly elevated homocysteine levels and increased risk of cardiovascular disease; however mutation status is not an independent risk factor.

CPT codes:
81291