Summary & Overview
HCPCS S3844: GJB2 (Connexin 26) Genetic Analysis for Congenital Deafness
HCPCS Level II code S3844 denotes genetic analysis of the connexin 26 gene (GJB2) performed to assess susceptibility to congenital, profound deafness. This molecular diagnostic targets a well-established genetic cause of hereditary sensorineural hearing loss; identifying pathogenic GJB2 variants can inform diagnosis, family counseling, and coordination of audiologic and rehabilitative services. Nationally, targeted GJB2 testing remains clinically significant due to its role in early detection of congenital deafness and implications for intervention timing.
Key payers in the coverage landscape include Aetna, Blue Cross Blue Shield plans, Cigna Health, UnitedHealthcare, and Medicare. The publication provides a national overview of coverage and billing practice considerations for S3844, including typical sites of service, common clinical indications, and the interplay between molecular diagnostics and audiology services.
Readers will learn concise benchmarks for use of HCPCS Level II code S3844, the clinical context for ordering GJB2 testing, and policy-relevant issues affecting reimbursement and claims processing. Where payer-specific policy text is not available, the report indicates that data are not present in the source input. The content focuses on the code’s clinical purpose, typical service delivery settings, and the reasons the test is used in newborns and infants with suspected congenital, profound hearing loss.
Billing Code Overview
HCPCS Level II code S3844 describes DNA analysis of the connexin 26 gene (GJB2) for susceptibility to congenital, profound deafness. The service is a genetic test that analyzes the GJB2 gene to detect variants associated with hereditary, congenital, and typically profound sensorineural hearing loss.
Service Type: Genetic testing / molecular diagnostic
Typical Site of Service: Clinical laboratory or specialized genetic testing facility
Data not available in the input.
Clinical & Coding Specifications
Clinical Context
A pediatric patient, age 6 months, is referred to a genetics clinic after newborn hearing screen and subsequent diagnostic auditory brainstem response testing confirm bilateral profound sensorineural hearing loss. The clinical workflow begins with a genetics consultation documenting family history of hearing loss and discussing genetic testing options. Pre-test counseling is performed by a genetic counselor or clinical geneticist, including informed consent for molecular testing of the GJB2 (connexin 26) gene. A blood or buccal DNA specimen is collected in the outpatient clinic or a central laboratory. The laboratory performs targeted sequencing of GJB2 to detect pathogenic variants associated with congenital, profound nonsyndromic deafness. Results are reported to the ordering clinician and genetic counselor; post-test counseling reviews pathogenic, likely pathogenic, variant of uncertain significance (VUS), or negative findings and implications for family testing, recurrence risk, and cochlear implant candidacy. Typical sites of service include outpatient genetics or otolaryngology clinics, pediatric specialty centers, hospital outpatient laboratories, and reference molecular diagnostics laboratories.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | Use when billing separately for professional interpretation of the genetic test result when the laboratory bills the technical component. |