Congenital Stationary Night Blindness (CSNB) Panel

New York
Approved

Genes

CABP4, CACNA1F, CHM, GNAT1, GRM6, NYX, PDE6B, RDH5, RHO, RPE65, SAG, TRPM1

Clinical Utility

  • Nonprogressive difficulty seeing in low light, existing from birth
  • Reduced visual acuity, myopia, and occasionally nystagmus and strabismus
  • Asymptomatic mothers with affected sons (X-linked inheritance)

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

J959

CPT Codes*

81404x1; 81479x1

ABN Required

No

Turnaround Time**

4 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.

**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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