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| Test Description |
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Test Name
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MTHFR mutations (677C-T, 1298A-C) |
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Synonym(s)
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MTHFR mutations (ALA222VAL, GLU429ALA)
MTHFR thermolabile polymorphisms
Methyelenetetrahydrofolate reductase DNA variant analysis |
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Description
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Methodology
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PCR, Allele specific primer extension on microarray |
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Performed
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Twice weekly |
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Turnaround Time
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1-7 days |
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Specimen Requirements
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Specimen must arrive within 72 hours of collection (48 hours for ACD).
Peripheral Blood: 1 mL whole blood in EDTA preferred. ACD is acceptable. Send specimen at room temperature or with cold pack (April - October).
Solid Tissue: 5x5x5 mm minimum or 500 mg of tissue. Specimen must be frozen within 1 hour of collection. Send specimen frozen and on dry ice.
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| Rejection Criteria |
Clotted peripheral blood. Thawed tissue specimen. Specimens drawn in heparin will be rejected due to heparin's inhibitory nature to Taq Polymerase. |
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CPT Code(s)
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83891, 83896x2, 83903x2, 83908x4, 83898, 83912, 83914x4 |
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Reference Range
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See interpretive report. |
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Contact
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Molecular Diagnostics Lab (214) 645-7075
Customer Service (214) 645-7057 or Toll Free (877) 887-8136 |
Last Modified: 02/10/2011 |
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