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HelpTest Code MTHFR MTHFR, C677T and A1298C
Performing Laboratory
NorDx
Reference Values
Negative for C677T and /or A1298C (reported as negative or positive for C677T and/or A1298C with zygosity.
Methodology
Real-time polymerase chain reaction (PCR)
(PCR is utilized pursuant to license agreements with Roche
Molecular Systems, Inc.)
Specimen Requirements
Specimen must arrive within 5 days of draw.
Draw blood in a lavender-top (EDTA) tube (yellow ACD also acceptable). Send 0.5 mL of EDTA blood at ambient temperature (refrigerated is also acceptable).
Day(s) Test Set Up
Thursday
Test Classification and CPT Coding
81291
Additional Information
Point mutations C677T and A1298C are probed with both wild and mutant probes to determine zygosity.
The MTHFR enzyme is involved in folate metabolism. The C677T and A1298C mutations in the MTHFR gene may cause altered enzyme activity leading to hyperhomocysteinemia and an increased risk of premature cardiovascular disease.
This test was developed and its performance characteristics determined by NorDx. 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 required. The diagnostic utility for this test has been validated by NorDx. This test is used for clinical purposes, and should not be regarded as investigational or for research use only.