• Test Code:
  • Department:
  • Test Synonyms:
    PTPNIINoonan Syndrome
  • CPT Code(s):

Noonan syndrome (NS) is an autosomal dominant disorder characterized by cardiac defects (including pulmonary stenosis, hypertrophic cardiomyopathy and septal defects), facial dysmorphology (low-set, posteriorly rotated ears, hypertelorism and downward slanting palpebral fissures), short stature, developmental delay, and bleeding diatheses.  NS has been shown to be caused by mutations in PTPN11 in about 50% of cases.  PTPN11 encodes the non-receptor-type protein tyrosine phosphatase SHP-2 on chromosome 12q24.1.  Incidence of NS is estimated to be 1:1000 to 1:2500 live births.

Reasons for Referral:

  • Confirmation of clinical diagnosis in patients with Noonan syndrome
  • Prenatal diagnosis


Sequencing for PTPN11 is carried out by amplification of all exons and intron/exon boundaries followed by bi-directional Sanger sequencing.  The sensitivity of full gene sequencing is estimated to be approximately 99% for single nucleotide substitutions and small insertions/deletions.  All nucleotide changes are analyzed within the context of current databases and literature to predict pathogenicity.

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B)

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

DNA: 10µg at a minimum of 100ng/µL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):


Turn Around Time:

14 – 21 days

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.


Additional Info:

Prior to any genetic testing we recommend genetic counseling.  Please contact Client Services at (855) 535-1522 for forms and information about prenatal diagnostic testing.

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