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Noonan Spectrum Disorders Panel, Sequencing
2010772
Copy Utility
Ordering Recommendation
Confirm a suspected clinical diagnosis of Noonan syndrome, cardiofacial cutaneous syndrome, costello syndrome, legius syndrome, Noonan syndrome with multiple lentigines (LEOPARD syndrome), Noonan-like syndrome, and Noonan-like syndrome with loose anagen hair (NS/LAH).
Mnemonic
NOONAN SEQ
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
3-6 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 (EDTA) or yellow (ACD Solution A or B).
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature
Refrigerated.
Unacceptable Conditions
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: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1
Hotline History
N/A
CPT Codes
81442
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2010773 | Noonan Disorders Sequencing Specimen | |
| 2010774 | Noonan Disorders Sequencing Interp |
* 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
- Cardiofaciocutaneous syndrome
- CFCS
- Costello syndrome
- CS
- LEOPARD syndrome
- MAPK
- Multiple lentigines syndrome
- Noonan-like syndrome with loose anagen hair
- NS/LAH
- RAS
- Rasopathies
- Rasopathy
Noonan Spectrum Disorders Panel, Sequencing
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