• Test Code:
    2130 (now 1240)1240
  • Department:
  • Test Synonyms:
    Noonan SyndromeFull Gene(s) Analysis
  • CPT Code(s):
    Contact KDL for billing information

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
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.


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Additional Info:

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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