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Shwachman-Diamond Syndrome (SBDS) Sequencing
2006240
Copy Utility
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.
Mnemonic
SBDS FGS
Methodology
Sequencing
Performed
Varies
Reported
3-4 weeks
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect
Lavender (K2 or K3 EDTA). Also acceptable: Pink (K2EDTA)
Specimen Preparation
Transport 5 mL whole blood. (Min: 2 mL)
Test is not performed at ARUP; separate specimens must be submitted when multiple tests are ordered.
Storage/Transport Temperature
Room temperature. Also acceptable: Refrigerated. Protect from extreme temperatures.
Unacceptable Conditions
Remarks
Clinical indication or reason for testing is required.
Stability
Ambient: 1 week; Refrigerated: 1 week; Frozen: Unacceptable
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 |
| 2010873 | Ordering Physician Name | 67102-4 |
| 2010874 | Ordering Physician Phone Number | 67714-6 |
| 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
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