Shwachman-Diamond Syndrome (SBDS) Sequencing

2006240
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Additional Technical Information

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Informed Consent for Genetic Testing

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Patient History For Molecular Genetic Testing

Ordering Recommendation

Refer to Additional Technical Information document.

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

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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