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

SBDS
  • 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
  • Capillary Sequencing

Ordering

109
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
Yes
Yes
  • 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
* For price inquiries please email zebras@genedx.com

References

  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