|
Test Catalog
|
|
Neurofibromatosis Type I (NF1) Evaluation |
#648 |
|
| Type of Disorder: |
Neuro-Oncology |
|
| Typical Presentation: |
Major features of NF1 include a wide range of severity marked by neurofibromas, caf? au lait spots, Lisch nodules, freckling, and optical gliomas. |
|
| 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 counselling, family planning. |
|
| Disease(s) tested for: |
Neurofibromatosis Type 1 |
|
| Test Details |
|
| Test Code: |
648 |
|
| Profile includes: |
Neurofibromatosis Type 1 Deletion Test, Neurofibromatosis Type 1 DNA Sequencing Test
|
|
| Informed Consent Required: |
No |
|
|
| Special Notes: |
Free parental testing may be offered if needed for result interpretation |
|
| Technical Information |
|
| Utility: |
Detects mutations in the NF1 gene |
|
| Methodology: |
DNA Sequencing and MLPA |
|
| Reference Value: |
No deletions or point mutations detected |
| CPT Coding |
|
|
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.
|
| Stacked CPT Code(s): |
83891(1), 83898(58), 83900(2), 83901(67), 83904(58), 83909(60), 83912(1), 83914(71) |
|
| CPT 2013: |
81408(1), 81479(1) |
|
| Shipping Considerations |
|
| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL |
| Collection Tube: |
Lavender top (EDTA) |
|
| Alternate
Specimen Requirements |
| Type: |
Contact lab director for alternate specimen type. |
|
| Storage Conditions: |
Refrigerate, avoid freezing |
|
| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours, Monday-Friday |
|
| Test Turnaround: |
21-28 days |
|
|
|
