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Diseases

Genetic and Rare Diseases Information Center (GARD)

Prader-Willi syndrome


Other Names for this Disease
  • PWS
  • Willi-Prader syndrome
  • Prader-Labhart-Willi syndrome
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Tests & Diagnosis

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How is Prader-Willi syndrome diagnosed?

There are clinical diagnostic criteria for Prader-Willi syndrome (PWS) that were developed in the past that continue to be useful. These criteria can be viewed on the National Institute of Health's NICHD Web site.

However, the current mainstay of a diagnosis when PWS is suspected is a form of genetic testing called DNA methylation testing. This testing can detect abnormal, parent-specific imprinting on the region of chromosome 15 that is responsible for PWS. It determines whether the region is maternally inherited only (i.e., the paternally contributed region is absent) and confirms a diagnosis in more than 99% of affected people. DNA methylation testing is especially important in people who have non-classic features, or are too young to show enough features to make the diagnosis based on signs and symptoms alone.[1]
Last updated: 12/28/2015

References
  1. Driscoll DJ, Miller JL, Schwartz S, and Cassidy SB. Prader-Willi Syndrome. GeneReviews. January 23, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1330/.


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
  • PWS
  • Willi-Prader syndrome
  • Prader-Labhart-Willi syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.