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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-Bodian syndrome
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Your Question

How is the diagnosis of Shwachman-Diamond syndrome confirmed? 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is Shwachman-Diamond syndrome diagnosed?

The diagnosis of Shwachman-Diamond syndrome relies on clinical findings, including pancreatic dysfunction and characteristic hematologic abnormalities.[1] In addition to a complete history and physical examination, other diagnostic tests may be used to aid in the diagnosis of this condition. Blood work may be performed to evaluate the white blood cells, red blood cells, and platelets under a microscope. Blood testing may also evaluate the function of the kidney, liver, and pancreas. Studies such as pancreatic stimulation testing and stool collection may also be performed. A Skeletal Survey may be done to evaluate the bones of the body. In addition, samples of bone marrow may be taken to examine blood cell lines (red cells, white cells, and platelets), genetic make up of the bone marrow, and the physical architecture of the bone marrow.[2]

Variation in severity and clinical manifestations may complicate the ability to establish a definitive diagnosis. Genetic testing may be used to confirm the diagnosis.[1] 

More details regarding the diagnosis of Shwachman-Diamond syndrome can be obtained from the GeneReviews report on this condition.
Last updated: 9/16/2010

Is genetic testing clinically available for Shwachman-Diamond syndrome? 

Mutations in the SBDS gene have been identified in about 90 percent of people with the characteristic features of Shwachman-Diamond syndrome.[3][1][4] Molecular genetic testing is clinically available.[1] See the Services tab for a link to laboratories that offer clinical genetic testing for Shwachman-Diamond syndrome.

Last updated: 9/16/2010