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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

Specimen Type

Whole Blood

Preferred Collection Container

LAV

Collection Instructions

Routine venipuncture

Collection Volume

3.0 mL

Minimum Collection Volume

1.0 mL

Testing Volume

1.0 mL

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

Day(s) and Time(s) Performed

Sunday through Saturday

Test Alias

55655; MTHFR; Methylenetetrahydrofolate Reductase
 

CPT Coding

81291

EPIC Code

LAB2404

Methodology

Polymerase Chain Reaction and Fluorescence Monitoring
 

Acceptable Collection Container

LAV (EDTA), PINK (EDTA), Y-ACD
 

Transport

Refrigerated

Turn Around Time

3-7 days

Lab Department

Referred Testing

LOINC

MTHFR Variant: c.665C>T    28005-7, MTHFR Variant: c.1286A>C    28060-2, MTHFR Interpretation    21709-1, MTHFR PCR Specimen    31208-2