Test Catalog

Test

Code
W001
Name
MTHFR MUTATION DETECTION
Notes
Description

Also known as: METHYLENETETRAHYDROFOLATE REDUCTASE, MTHFR, 4076, W001
Orderable Code: W001
Test Contains (LOINC): MTHFR Mutation c.665C>T (28005-7),
MTHFR Mutation c.1286A>C (28060-2),
Interpretation
SPECIMEN REQUIREMENTS
Sample Type: Whole Blood
Preferred Container: EDTA (Lavender Top) Tube
Sample Volume: 5.0 mL
Handling Instructions: Refrigerate specimen after collection.
Client Transport Temperature: Refrigerated
Specimen Stability: Ambient: 7 Days; Refrigerated: 1 Month; Frozen: 1 Month
Unsuitable Specimen: Heparinized specimens.
TESTING
Frequency: Tuesday, Thursday
Expected Turn Around: 6 – 8 Days
Responsible Dept: Reference Lab
Referral Lab: SRL
Referral Lab Code: W001
CPT: 81291
Methodology: Real-Time Polymerase Chain Reaction (RT-PCR) with allele-specific TaqMan probes
ADDITIONAL INFORMATION
Ordering Recommendation: For detection of Methylenetetrahydrofolate Reductase (MTHFR) variants c.665C>T (previously designated C677T) and c.1286A>C (previously designated A1298C) in individuals with increased plasma homocysteine levels and at risk for venous thromboembolism.
Compliance Statement: This test was developed and its performance characteristics determined by Sonic Reference Laboratory (SRL). It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes and should not be regarded as investigational or for research. SRL is qualified to perform high complexity testing under the Clinical Laboratory Improvement Amendments (CLIA).