Noonan Syndrome (PTPN11) Sequencing with Reflex to (SOS1) Sequencing
2004189
Ordering Recommendation
Acceptable initial test to confirm a clinical diagnosis of Noonan syndrome or LEOPARD syndrome.
Mnemonic
NS REFLEX
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 35 days  
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), pink (K2EDTA), 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
   
Interpretive Data
Background Information for Noonan Syndrome (PTPN11) Sequencing with Reflex to (SOS1) Sequencing:
Characteristics of NS
: Short stature, developmental delay, dysmorphic facial features, congenital heart disease, broad or webbed neck, superior pectus carinatum and inferior pectus excavatum, low-set nipples, cryptorchidism, coagulation, and lymphatic disorders.
Incidence
: 1 in 1,000 to 1 in 2,500.
Inheritance
: Autosomal dominant.
Penetrance
: Unknown.
Cause of NS
: Pathogenic mutations in PTPN11, SOS1, RAF1, KRAS and other unidentified genes.
Genes tested
: PTPN11 and SOS1.
Clinical Sensitivity
: Approximately 70 percent.
Methodology
: Bidirectional sequencing of the entire PTPN11 coding region and intron-exon boundaries. If no known pathogenic mutations are detected, bidirectional sequencing of the SOS1 coding region and intron-exon boundaries is performed.
Analytical Sensitivity and Specificity
: 99 percent.
Limitations
: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations and large deletions/duplications will not be detected. Mutations in genes, other than PTPN11 and SOS1, will not be evaluated.





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)
81406; If reflexed, add 81406
Components
Component Test Code*Component Chart NameLOINC
2004190NS REFLEX Specimen 
2004192Noonan Syndrome Interpretation 
* 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
  • PTPN11 and SOS1 reflex assay