Noonan Syndrome (PTPN11) Sequencing
0051805
Ordering Recommendation
Acceptable initial test to confirm a clinical diagnosis of Noonan syndrome or LEOPARD syndrome.
Mnemonic
PTPN11 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 21 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:
Characteristics of Noonan Syndrome (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.
Characteristics of LEOPARD syndrome:
Lentigines, ECG abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness.
Incidence:
1 in 1000 to 1 in 2500 for NS; rare for LEOPARD syndrome.
Inheritance:
Autosomal dominant.
Penetrance:
Unknown.
Cause of NS:
Deleterious mutations in PTPN11, SOS1, RAF1, KRAS and other unidentified genes.
Cause of LEOPARD syndrome:
Mutations in PTPN11 exons 7 and 12 as well as other unidentified genes.
Gene tested:
PTPN11.
Clinical Sensitivity:
50 percent of NS is due to PTPN11 mutations; unknown for LEOPARD syndrome.
Methodology:
Bidirectional sequencing of the entire PTPN11 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 PTPN11, will not be detected.



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
0051806Noonan Syndrome (PTPN11) Sequencing
2001373PTPN11 FGS Specimen
* 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
  • Leopard Syndrome
  • PTPN11 sequencing assay
  • PTPN11, Full Gene Sequence, Blood