DFNB1 Autosomal Recessive Hearing Loss (GJB2 sequencing and common GJB6 deletions)

NY Approved

Test Overview

Clinical Utility

  • Confirmation of a clinical diagnosis
  • Assistance with decisions about treatment and management
  • Distinguishing between non-syndromic hearing loss other and forms of hearing loss
  • Defining the inheritance pattern in the family or individual
  • Allowing for testing of at-risk relatives and prenatal diagnosis in families with known pathogenic variant(s)

Test Details

Genes

GJB2 (Cx26), GJB6

Conditions

  • Keratitis-Ichthyosis-Deafness syndrome (KID syndrome)
  • Sensorineural Hearing Loss (SNHL)
  • Vohwinkel syndrome

Lab Method

  • Capillary Sequencing

Ordering Information

Test Code: TA49
CPT Codes*: 81252x1; 81254x1
ABN Required: No
Turnaround Time**: 3 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.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs