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SBDS Gene Sequencing

New York
Approved


Genes

SBDS

Conditions

  • Shwachman-Diamond Syndrome (SDS)

Clinical Utility

  • Confirmation of a clinical diagnosis
  • Carrier testing in relatives
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • Prenatal diagnosis in at-risk pregnancies

Lab Method

  • Capillary Sequencing

Test Code

109

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Dried Blood Spots

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.