Disease

Shwachman Diamond syndrome (SDS)

Description

Shwachman Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction, bone abnormalities, hematologic abnormalities including neutropenia or multi-lineage cytopenia and predisposition toward myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML).  Shwachman Diamond syndrome is inherited as an autosomal recessive condition and is the second most common cause of congenital exocrine pancreatic insufficiency after cystic fibrosis.  However, pancreatic dysfunction can improve with age and may not be present in older patients.

Indications

  • Confirmation of diagnosis in a symptomatic individual
  • Carrier detection in individuals with a family history of SDS
  • Prenatal diagnosis of an at-risk fetus, after confirmation of variants in the parents (by prior arrangement only)
  • Presymptomatic diagnosis in an at-risk sibling or potential HSCT donor

Testing Methodology

PCR-based sequencing of entire coding region, intron/exon boundaries, as well as known pathogenic variants (HGMD 2018.1) in the promoter and deep intronic regions of the specified gene.

Test Sensitivity

Analytical Sensitivity: The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.

Limitations: Variants in regulatory regions and non-reported variants in untranslated regions may not be detected by this test. Large deletions involving entire single exons or multiple exons, large insertions and other complex genetic events will not be identified using this methodology. Rare primer site variants may lead to erroneous results.

Turnaround Time

28 days

CPT Codes

81479

How to Order

Testing for this gene is also available as part of the Pancreas Panel and Pancreatic Insufficiency Panel by next-generation sequencing. Targeted variant analysis is also available for this gene. Download Heritable Pancreatic Disease requisition.

Additional Information

Download additional test information.

References

Shimamura, A. (2006). "Shwachman-Diamond syndrome." Semin Hematol 43(3): 178-188.

Stormon, M.O., W.F. Ip, et al. (2010) "Evidence of a Generalized Defect of Acinar Cell Function in Shwachman-Diamond Syndrome." Journal of Pediatric Gastroenterology and Nutrition 51(1): 8-13.