Noonan Syndrome (SOS1) Sequencing
2004195
Ordering Recommendation
Acceptable secondary test if no pathogenic mutations are detected with PTPN11 testing.
Mnemonic
SOS1 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 28 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 (SOS1) Sequencing:
Characteristics
: 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.
Gene tested
: SOS1.
Clinical Sensitivity
: Approximately 10 percent of NS is due to SOS1 mutations.
Methodology
: Bidirectional sequencing of the entire SOS1 coding region and intron-exon boundaries.
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 SOS1, will not be evaluated.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81406
Components
Component Test Code*Component Chart Name
2004196SOS1 FGS Specimen
2004197Noonan Syndrome (SOS1) Seq 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
  • SOS1 sequencing assay