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DKC1 Gene Sequencing

New York
Approved


Genes

DKC1

Conditions

  • Dyskeratosis Congenita
  • Hoyeraal-Hreidarsson Syndrome (HHS)

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
  • Prenatal diagnosis in at-risk pregnancies

Lab Method

  • Capillary Sequencing

Test Code

108

CPT Codes*

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.