Ordering Recommendation

Use to confirm a diagnosis of Shwachman-Diamond Syndrome (SDS). May be used for prenatal testing in at-risk pregnancies or for carrier screening in relatives of an individual diagnosed with SDS.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Lavender (K2 or K3EDTA). Also acceptable: Pink (K2EDTA) or buccal swabs.

Specimen Preparation

Transport 5 mL whole blood (Min: 2 mL) or 2 buccal swabs (Min: 2 swabs).
Test is not performed at ARUP; separate specimens must be submitted when multiple tests are ordered.

Storage/Transport Temperature

Refrigerated. Also acceptable: Room temperature. Protect from extreme temperatures.

Unacceptable Conditions
Remarks
Stability

Ambient: 1 week; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Sequencing

Performed

Varies

Reported

21-28 days

Reference Interval

By report

Interpretive Data



Compliance Category

Performed by non-ARUP Laboratory

Note

Hotline History

N/A

CPT Codes

81479

Components

Component Test Code* Component Chart Name LOINC
2006241 Shwachman-Diamond Syndrome (SBDS) 41764-2
2010883 EER Shwachman-Diamond Syndrome (SBDS) 11526-1
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Pancreatic insufficiency and bone marrow dysfunction, congenital lipomatosis of the pancreas
  • SBDS Gene Sequencing
  • Shwachman-Bodian Syndrome
  • Shwachman-Bodian-Diamond Syndrome
Shwachman-Diamond Syndrome (SBDS) Sequencing

GeneDx