| Test code: | 648 |
| Type of disorder: | Neuro-Oncology |
| Disease(s) tested for: | Neurofibromatosis Type 1 |
| Genes Included: | NF1, NF1 Deletion, |
| Tests included: | Neurofibromatosis Type 1 Deletion Test Neurofibromatosis Type 1 DNA Sequencing Test |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects mutations in the NF1 gene Typical Presentation: Findings include neurofibromas, café au lait spots, Lisch nodules, Inguinal and axillary freckling and optic gliomas with variability in severity. Indications for testing: Confirm a diagnosis in suspected cases when the patient does not meet the NIH diagnostic criteria. Early detection will allow for patient surveillance, genetic counseling, family planning. |
| Methodology: | Sanger Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA) |
| Reference Range: | No deletions or point mutations detected |
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
| CPT: | 81408(1), 81479(1) |
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: | Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: | 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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