Methylenetetrahydrofolate Reductase (MTHFR) Thermolabile Variant, DNA Analysis
Also known as: Hyperhomocysteinemia, C677T and A1298C Mutations, MTHFR
Use
Follow-up evaluation in individuals with hyperhomocysteinemia
Special Instructions
The test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the U.S. FDA. Health care providers should discuss test results with genetic coordinators if needed, using the provided contact number 1-800-345-GENE.
Limitations
The test is limited by its analysis of only two MTHFR variants: c.665C>T (p. Ala222Val) and c.1286A>C (p. Glu429Ala). The results must be combined with clinical information for accurate interpretation. Molecular-based testing is highly accurate yet subject to potential errors due to blood transfusions, bone marrow transplants, somatic mosaicism, or sample mishandling. The test does not assess other genetic, clinical, or environmental factors contributing to hyperhomocysteinemia and should not be used to evaluate venous thromboembolism or obstetric risks, due to insufficient evidence of clinical utility. False positives/negatives may occur due to factors such as genetic variants and erroneous family representation.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
6-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
7 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube or yellow-top (ACD) tube
Storage Instructions
Maintain specimen at room temperature or refrigerate.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container.