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Shwachman-Diamond Syndrome via the SBDS Gene

Summary and Pricing

Test Method

Bi-Directional Sanger Sequencing
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
SBDS 81479 81479 $690
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
1289SBDS81479 81479 $690 Order Options and Pricing

Pricing Comments

CNV detection may be ordered through Test #600. This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

4 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Siwu Peng, PhD

Clinical Features and Genetics

Clinical Features

Shwachman-Diamond Syndrome (SDS), also known as Shwachman-Bodian syndrome, is characterized by exocrine pancreatic dysfunction, bone marrow failure and skeletal abnormalities (Dall’Oca et al. 2012). The pancreatic dysfunction causes malabsorption, malnutrition and growth failure. Other features include short stature, hepatomegaly, recurrent infections, and bone abnormalities such as bone age delay, metaphyseal chondrodysplasia, and generalized osteopenia. Hematologic abnormalities cause single or multiple lineage cytopenia, such as neutropenia, thrombocytopenia, anemia or pancytopenia (Rommens and Durie 2008). A diagnosis of SDS also increases an individual's susceptibility to myleodysplasia syndrome (MDS), and acute myelogenous leukemia (Burroughs et al. 2009). Its prevalence is 1:76,000 births with no specific ethnic predilection (Rommens and Durie 2008).


Shwachman-Diamond Syndrome is inherited in an autosomal recessive manner. It is caused by pathogenic variants in the SBDS gene. SBDS encodes a protein that is involved in ribosome biogenesis and mitotic spindle stabilization (Burroughs et al. 2009). Most parents of an affected individual are carriers of an SBDS mutation, however de novo mutations have been reported (Rommens and Durie 2008). Approximately 90% of the reported mutations are the result of gene conversion from an adjacent pseudogene, SBDSP, which shares 97% homology with SBDS but does not generate a functional protein (Boocock et al. 2003). Two variants within exon 2 (c.183_184delinsCT and c.258+2T>C) account for 76% of these mutations. Other mutations have been reported, but no genotype-phenotype correlations are known to exist (Rommens and Durie 2008). Up to 10% of patients lack an identifiable SBDS mutation, but can still be diagnosed clinically with SDS (Dall’Oca et al. 2012).

Clinical Sensitivity - Sanger Sequencing

The clinical sensitivity of this test is >90% (Rommens and Durie 2008).

The clinical sensitivity of large deletions and duplications is unknown, but gross deletions have been reported (Donadieu et al. 2012; Costa et al. 2007).

Testing Strategy

This test involves bidirectional DNA Sanger sequencing of all coding exons and ~10 bp of flanking noncoding sequence of the SBDS gene. We will also sequence any single exon (Test #100) or pair of exons (Test #200) in family members of patients with known mutations or to confirm research results.

Indications for Test

Individuals who are suspected of Shwachman-Diamond Syndrome or individuals who have a family history of SDS and want to know their SBDS mutation carrier status. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SBDS.


Official Gene Symbol OMIM ID
SBDS 607444
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Shwachman Syndrome AR 260400

Related Tests

Cystic Fibrosis and CF-Related Disorders via the CFTR Gene
Severe Congenital Neutropenia and Cyclic Neutropenia via the ELANE Gene
Severe Congenital Neutropenia and Neutrophilia via the CSF3R Gene
Severe Congenital Neutropenia Panel


  • Boocock GRB, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM. 2003. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat. Genet. 33: 97–101. PubMed ID: 12496757
  • Burroughs L, Woolfrey A, Shimamura A. 2009. Shwachman-Diamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis, and Treatment. Hematology/Oncology Clinics of North America 23: 233–248. PubMed ID: 19327581
  • Costa E, Duque F, Oliveira J, Garcia P, Gonçalves I, Diogo L, Santos R. 2007. Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman–Diamond syndrome. Blood Cells, Molecules, and Diseases 39: 96–101. PubMed ID: 17376717
  • Dall’Oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P. 2012. Shwachman–Diamond syndrome. MUSCULOSKELETAL SURGERY 96: 81–88. PubMed ID: 22201042
  • Donadieu J, Fenneteau O, Beaupain B, Beaufils S, Bellanger F, Mahlaoui N, Lambilliotte A, Aladjidi N, Bertrand Y, Mialou V, Perot C, Michel G, et al. 2012. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica 97: 1312–1319. PubMed ID: 22491737
  • Rommens JM, Durie PR. 2008. Shwachman-Diamond Syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301722


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

Specimen Types

Specimen Requirements and Shipping Details

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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