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Diseases

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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

References
  1. Amos CI, Frazier ML, McGarrity TJ, . Peutz-Jeghers Syndrome. GeneReviews. 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pjs. Accessed 9/3/2009.


Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz-Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.