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Neurofibromatosis Type 1 and Legius Syndrome Panel, Sequencing and Deletion/Duplication
3003927
Copy Utility
Ordering Recommendation
Use to confirm a diagnosis of neurofibromatosis type 1 or Legius syndrome.
Mnemonic
NF1 NGS
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
3 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Specimen Preparation
Transport 3 mL whole blood. (Min: 3 mL)
Storage/Transport Temperature
Refrigerated
Unacceptable Conditions
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Remarks
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report
Compliance Category
Laboratory Developed Test (LDT)
Note
Genes tested: NF1 (NM_001042492); SPRED1 (NM_152594)
Hotline History
Hotline History
Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
N/A
CPT Codes
81405, 81408, 81479
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3003928 | NF1 and LS (SPRED1) Panel Specimen | 66746-9 |
| 3003929 | NF1 and LS (SPRED1) Panel Interpretation | 50398-7 |
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
- NF1
- SPRED1
- Von Recklinghausen Disease
Neurofibromatosis Type 1 and Legius Syndrome Panel, Sequencing and Deletion/Duplication
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