Ordering Recommendation

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.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Preferred transport temp: Refrigerated.

Unacceptable Conditions

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

Remarks

Counseling and informed consent are recommended for genetic testing. Consent forms are linked above.
New York Clients: informed consent is required with submission.

Stability

Room Temperature: 3 days; Refrigerated: 1 week; Frozen: 1 month

Methodology

Polymerase Chain Reaction (PCR) / Fluorescence Monitoring

Performed

Sun-Sat

Reported

2-6 days

Reference Interval

Refer to report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81291

Components

Component Test Code* Component Chart Name LOINC
0055657 MTHFR Variant: c.665C>T 28005-7
0055658 MTHFR Variant: c.1286A>C 28060-2
0055660 MTHFR Interpretation 21709-1
2001331 MTHFR PCR Specimen 31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • MTHFR
  • MTHFR DNA assay
Methylenetetrahydrofolate Reductase (MTHFR) 2 Variants