Noonan Spectrum Disorders Panel, Sequencing, 15 Genes
2010772
Ordering Recommendation
Preferred test for individuals with clinical phenotype of Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome, LEOPARD syndrome, Legius syndrome, or Noonan-like syndrome.
Mnemonic
NOONAN SEQ
Methodology
Massive Parallel Sequencing
Performed
Varies
Reported
10-12 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.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81404 (HRAS); 81405x3 (KRAS, SHOC2, SPRED1); 81406 x6 (BRAF, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1); 81479
Components
Component Test Code*Component Chart NameLOINC
2010773Noonan Disorders Sequencing Specimen 
2010774Noonan 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
  • BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1, MEK1, MAP2K2, MEK2, NRAS, PTPN11
  • Cardiofaciocutaneous syndrome, Costello syndrome, Multiple lentigines syndrome, LEOPARD syndrome
  • RAB40AL, RAF1, RIT1, SHOC2, SOS1, SPRED1