Noonan Syndrome (PTPN11) Sequencing with Reflex to (SOS1) Sequencing
2004189
 
Ordering Recommendation
Diagnostic testing for Noonan 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.
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.



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; If reflexed, add 81406
Components
Component Test Code*Component Chart Name
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, contact interface support at interface.support@aruplab.com.
Cross References