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| 81123:METHYLENETETRAHYDROFOLATE REDUCTASE MUTATION DETECTION (THERMOLABILE FORM) (C677T & A1298C) | |||||||||
| Alias Names: | MTHFR | ||||||||
| Methodology: | Polymerase Chain Reaction / Fluorescence Monitoring | ||||||||
| Edit Date: | 11/16/2009 | ||||||||
| Performed: | Varies | ||||||||
| Released: | 7 days after setup at PeaceHealth Laboratories’ reference lab. | ||||||||
| CPT Code: | 83890-903F / 83896-903F x4 / 83900-903F / 83912-903F | ||||||||
| Specimen Collection Details | |||||||||
| Collection: | One 4 mL lavender top tube (EDTA). Also acceptable: One 6 mL or 8.5 mL yellow top tube Solution A or B (ACD). | ||||||||
| Handling: | Keep specimen as whole blood. Do not centrifuge. | ||||||||
| Stability: | 72 hours ambient or 7 days refrigerated. Specimen unstable frozen. | ||||||||
| Standard Volume: | 3 mL whole blood. | ||||||||
| Minimum Volume: | 1 mL whole blood. | ||||||||
| Transport: | Refrigerated. | ||||||||
| Rejection Criteria: | Serum, plasma, frozen whole blood, clotted blood, or severe hemolysis.
This test may require insurance company prior authorization before ordering.
Please check the prior authorization list . Failure to gain preauthorization may result in denial of coverage. |
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| Reference Range: | |||||||||||||||||||
| Negative: This sample is negative for MTHFR C677T and A1298C mutations.
The C677T and A1298C mutations in the heterozygous or homozygous states correlate with reduced enzyme activity. Only individuals homozygous for C677T mutation or compound heterozygous for the C667T/A1298C mutations have significantly elevated plasma homocysteine levels. Homozygosity for the C677T mutation (from 1.5 to 15% of the population) is associated with intermediate and mild hyperhomocystinemia and a threefold increased risk for premature cardiovascular disease. Although correlation data is known, penetrance information is not available. Less is known about the penetrance and risk associated with compound heterozygosity for the C667T/A1298C. Mutations in genes or mutations other than C677T and A1298C in the MTHFR gene that may cause increased plasma homocysteine, coronary heart disease, or venous thrombosis are not ruled out. Patient DNA is assayed for the C677T and A1298C mutations in the methylenetetrahydrofolate reductase gene by polymerase chain reaction (PCR), and fluorescence monitoring using hybridization probes. Sensitivity and specificity for detection of this mutation are 99.9%. This test is performed pursuant to an agreement with Roche Molecular Systems, Inc. Due to the unique nature of genetic testing, patients should receive pre- and post-test counseling. Informed consent is recommended. Consent forms are available from PeaceHealth Laboratories Client Services upon request or online at www.aruplab.com. Note: For genotyping individuals with a family history of neural tube defects, please contact the laboratory. This test is not recommended for nonsymptomatic patients under 18 years of age. |
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