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Diseases

Genetic and Rare Diseases Information Center (GARD)

Peutz-Jeghers syndrome


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

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Is genetic testing available for Peutz-Jeghers syndrome?

Yes, genetic testing is available for STK11, the gene known to cause Peutz-Jeghers syndrome.[1] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 3/15/2015

How is Peutz-Jeghers syndrome diagnosed?

A diagnosis of Peutz-Jeghers syndrome (PJS) is based on the presence of characteristic signs and symptoms. In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS.[1]

Genereviews offers more detailed information regarding the diagnosis of PJS including the clinical diagnostic criteria. Click here to view this resource.
Last updated: 3/15/2015

References
  1. Thomas J McGarrity, MD, Christopher I Amos, PhD, Marsha L Frazier, PhD, and Chongjuan Wei, PhD. Peutz-Jeghers Syndrome. GeneReviews. July 2013; http://www.ncbi.nlm.nih.gov/books/NBK1266/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.