MTHFR
Methylenetetrahydrofolate Reductase Mutation Detection
EPIC Test Procedure Code: LAB3620
Synonyms:
Red Cell 5-10 Methylenetetrahydrofolate Red
Performing Lab:
Referral Laboratory
Container Type:
Lavender top (EDTA) tube, yellow top (ACD) tube, or LabCorp buccal swab kit
Specimen Type:
Whole blood or buccal swab kit
Preferred Volume:
7 mL whole blood or 2 buccal swabs
Minimum Volume:
3 mL whole blood or 2 buccal swabs
Store and Transport:
Room temperature
Unacceptable Condition:
Reasons for rejection include frozen or hemolyzed specimens, quantity not sufficient for analysis, improper containers, only one buccal swab received, or wet buccal swabs received.
CPT Codes:
81291 - MTHFR (EAP 30021386)
Method:
Polymerase chain reaction (PCR) and restriction enzyme analysis
Clinical Significance:
This tests for both the C677T & A1298C mutations.