Which lab tests are included in the workup for 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

A complete blood count (CBC) is used to assess neutropenia, anemia, and thrombocytopenia. Other laboratory studies in SDS include the following:

  • Neutrophil function studies

  • Fetal hemoglobin

  • Iron, folate, and vitamin B12 levels

  • Secretin-cholecystokinin quantitative stimulation test

  • Sweat test

  • Glucose tolerance test

  • Urinalysis

  • Serum bicarbonate, PCO2, hydrogen ion concentration (H+), and urinary pH

  • Liver function tests

  • Immunoglobulin levels

  • Growth hormone levels

  • Vitamin A, D, E and K levels

  • Serum calcium and phosphorous


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