• Test Code:
    2130
  • Department:
  • Test Synonyms:
    PTPNIINoonan Syndrome
  • CPT Code(s):
    81406
Background:

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

Methodology:

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):

Weekly

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.

References:

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.

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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