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2006240
Shwachman-Diamond Syndrome (SBDS) Sequencing
SBDS FGS
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
Hotline History
Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
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
