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Noonan Spectrum Disorders Panel, Sequencing
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
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 Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
GENES TESTED: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1
Hotline History
View Hotline History
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
  • Cardiofaciocutaneous syndrome
  • CFCS
  • Costello syndrome
  • CS
  • LEOPARD syndrome
  • MAPK
  • Multiple lentigines syndrome
  • Noonan-like syndrome with loose anagen hair
  • NS/LAH
  • RAS
  • Rasopathies
  • Rasopathy