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

New York
Approved


Genes

GJB2 (Cx26), GJB6

Conditions

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

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)

Lab Method

  • Capillary Sequencing

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.

**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.