Shwachman-Diamond Syndrome (SDS)

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder that includes pancreatic exocrine insufficiency and hematological abnormalities as consistent features. Other common manifestations include skeletal abnormalities, short stature, liver dysfunction and increased risk of malignancy. Serious infections and acute myeloid leukemia are major causes of mortality and morbidity. The syndrome is caused by the partial, not complete, deficiency of the novel protein encoded by the SBDS gene, thought to be involved in RNA metabolism.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier testing in relatives
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • Prenatal diagnosis in at-risk pregnancies


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


  • 288 Diseases of white blood cells Excludes: leukemia (204.0-208.9)
  • 208 Leukemia of unspecified cell type The following fifth-digit subclassification is for use with category 208: 0 without mention of having achieved remission failed remission 1 in remission 2 in relapse
  • 284.8 Other specified aplastic anemias
  • 783.43 Short stature, Growth failure, Growth retardation, Lack of growth, Physical retardation
  • 577.9 Unspecified disease of pancreas
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**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


  1. Boocock, G., et al, Mutations in SBDS are associated with Shwachman-Diamond syndrome, 2003, Nature Genetics 33:97-101
  2. Kuijpers, T, et al., Hematologic abnormalities in Shwachman-Diamond syndrome: lack of genotype-phenotype relationship, 2005, Blood 106:356-361
  3. Costa E., et al, Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome, 2003, Blood Cells Mol Dis 29:96