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Genetic and Rare Diseases Information Center (GARD)

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Peutz Jeghers syndrome

Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz-Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
More Names
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Tests & Diagnosis

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How is Peutz-Jeghers syndrome (PJS) diagnosed?

The diagnosis of Peutz-Jeghers syndrome is based on clinical findings. In individuals with a clinical diagnosis of PJS, molecular genetic testing of the STK11(LKB1) gene reveals disease-causing mutations in approximately 100% of individuals who have a positive family history and approximately 90% of individuals who have no family history of PJS. Such testing is available clinically.[1]
GeneTests lists labs conducting clinical testing for PJS. Click here to access this list. Please note: Because many of the labs listed through GeneTests do not accept direct patient contact, we strongly recomend that you work with a genetics professional or other health care provider.
Last updated: 3/4/2010

  1. Amos CI, Frazier ML, McGarrity TJ, . Peutz-Jeghers Syndrome. GeneReviews. 2007; Accessed 9/3/2009.