What is the role of genetic testing in the workup of Shwachman-Diamond syndrome (SDS)?

Updated: Nov 17, 2020
  • Author: Antoinette C Spoto-Cannons, MD, FAAP; Chief Editor: Hassan M Yaish, MD  more...
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Answer

Diagnosis is confirmed by performing genetic testing for the SBDS gene located on chromosome 7q11, which is present in 90% of patients with Shwachman-Diamond syndrome.


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