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Diamond-Blackfan Anemia Panel

New York
Approved


Genes

GATA1, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29, RPS7

Conditions

  • Diamond-Blackfan Anemia
  • Blackfan-Diamond Syndrome

Clinical Utility

  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Identification of very mild or clinically silent cases
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

J450

CPT Codes*

81405x1, 81479x1

ABN Required

No

Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*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.