DFNB1 Autosomal Recessive Hearing Loss (GJB2 sequencing and common GJB6 deletions)
New York
Approved
Genes
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
Alternative Specimen
*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.
Test Documents
Billing
Targeted Variant Testing