Test Code MTHFRS MTHFR

Important Note

Examines one genetic factor that contributes to hyperhomocysteinemia. Test is not recommended for recurrent pregnancy loss, thrombophilia screening, or neural tube defect risk assessment, or for family members of individuals with known MTHFR variants.

Variants tested are: c.665C>T (previously designated C677T) and c.1286A>C (previously designated A1298C).

Additional Codes

55655

Methodology

Polymerase Chain Reaction and Fluorescence Monitoring

Specimen Type

Whole Blood

Preferred Collection Container

LAV

Collection Volume

3.0 mL

Minimum Collection Volume

1.0 mL

Collection Instructions

Routine venipuncture

Transport

Refrigerated

Rejection Criteria

Plasma or serum. Heparinized specimens. Frozen specimens in glass collection tubes.

Specimen Storage and Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month

Turn Around Time

3-7 days

Lab Department

Referred Testing

Test Alias

55655; MTHFR; Methylenetetrahydrofolate Reductase

CPT Coding

81291

EPIC Code

LAB2404

Acceptable Collection Container

LAV (EDTA), PINK (EDTA), Y-ACD

Testing Volume