BEACON EMR HIPAA Disclaimer Site Map Social Media
BayCare Health System
Community Benefit Financial Assistance Policy Quality Report Card Health Library News Doctor Connect Find Us
Services Hospitals Find A Doctor Classes & Events About Us Careers Contact Us Get E-Newsletter
MTHFR Mutation
 Back  Back

May We Help You?

Call 1-877-692-2922
Monday-Friday, 8am to 5pm

Persons with hearing and speech disabilities can reach the above number through TDD and other specialized equipment by calling the Florida Relay Service at 711.

Contact Us
Search jobs

Decrease (-) Restore Default Increase (+) Font Size
Print    Email

MTHFR Mutation

Test name:
Methylene tetrahydrofolatereductase (MTHFR) mutation

Order name:

Specimen requirements:
EDTA Peripheral blood

Minimum volume:
0.5 mL

Storage and stability information:
Room temperature – 1 week

Test performed:
Once per week

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:

Serving The Tampa Bay Area © Copyright 2015 BayCare Health System