Dyskeratosis Congenita Panel

New York
Approved

Genes

ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53

Conditions

  • Dyskeratosis Congenita

Clinical Utility

  • Confirmation of a clinical diagnosis
  • Carrier testing for family members of the affected patient
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

TB47

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Extracted DNA

*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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

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