Ordering Recommendation

Use to confirm a diagnosis of Shwachman-Diamond Syndrome (SDS). May be used for carrier screening in individuals with a family history of 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

Prenatal specimens

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