Chat
Noonan Spectrum Disorders Panel, Sequencing
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
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
3-6 weeks
New York DOH Approval Status
Specimen Required
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Refrigerated.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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
CPT Codes
81442
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2010773 | Noonan Disorders Sequencing Specimen | |
| 2010774 | Noonan Disorders Sequencing Interp |
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
Feedback
