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
Lavender (K2 or K3 EDTA). Also acceptable: Pink (K2EDTA)
Transport 5 mL whole blood. (Min: 2 mL)
Test is not performed at ARUP; separate specimens must be submitted when multiple tests are ordered.
Room temperature. Also acceptable: Refrigerated. Protect from extreme temperatures.
Clinical indication or reason for testing is required.
Ambient: 1 week; Refrigerated: 1 week; Frozen: Unacceptable
Performed by non-ARUP Laboratory
|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|
- Pancreatic insufficiency and bone marrow dysfunction, congenital lipomatosis of the pancreas
- SBDS Gene Sequencing
- Shwachman-Bodian Syndrome
- Shwachman-Bodian-Diamond Syndrome