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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Shwachman-Diamond syndrome


Other Names for this Disease
  • Congenital lipomatosis of pancreas
  • Lipomatosis of pancreas, congenital
  • Pancreatic insufficiency and bone marrow dysfunction
  • SDS
  • Shwachman 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.

Tests & Diagnosis

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Is genetic testing available for Shwachman-Diamond syndrome? 

Yes, genetic testing is available for SBDS, the gene known to cause most cases of Shwachman-Diamond syndrome (SDS).[1] Carrier testing for at-risk relatives and prenatal testing are possible if both disease-causing changes (mutations) in the family are known.

In less than 10% of people with SDS, no mutation in the SBDS gene is identified.[1] The exact underlying cause of the condition in these cases is unknown. Genetic testing is not an option for these families.
Last updated: 2/16/2015

References
  1. Kasiani Myers, MD. Shwachman-Diamond Syndrome. GeneReviews. September 2014; http://www.ncbi.nlm.nih.gov/books/NBK1756/.


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
  • Congenital lipomatosis of pancreas
  • Lipomatosis of pancreas, congenital
  • Pancreatic insufficiency and bone marrow dysfunction
  • SDS
  • Shwachman 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.