Summary & Overview
CPT 81252: Full Gene Sequencing of GJB2 (Connexin 26)
CPT code 81252 represents full gene sequencing of GJB2 (gap junction protein, beta 2; connexin 26), a molecular diagnostic assay used primarily to detect genetic variants associated with hereditary hearing loss and other GJB2-related disorders. Nationally, this code is used for detailed genomic analysis that can impact diagnostic clarity, family counseling, and genetic confirmation of clinical findings. The test is performed in specialized clinical or reference laboratories and is part of the expanding portfolio of clinically actionable genetic tests.
Key payers covered in this analysis include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a concise briefing on clinical context and coding purpose, payer coverage landscape, and common billing considerations. The publication highlights reimbursement benchmarks, variations across major payers, and recent policy updates affecting molecular diagnostic lab services. It also summarizes operational implications for laboratories and billing teams, including typical sites of service and the nature of the technical sequencing procedure.
The content is intended for a national audience of laboratory directors, coding and billing specialists, and health policy analysts seeking a practical overview of CPT code 81252, its clinical role, and payer-related payment considerations. Data not available in the input is noted where applicable.
Billing Code Overview
CPT code 81252 describes a laboratory test in which the technical process analyzes the entire gene sequence for gap junction protein, beta 2 (connexin 26), also known as GJB2. The service is a molecular genetic sequencing test that assesses the full coding sequence of the GJB2 gene to identify sequence variants associated with hereditary hearing loss and other GJB2-related conditions.
Service Type: Molecular diagnostic / genetic sequencing
Typical Site of Service: Clinical laboratory or reference genomic testing laboratory
Clinical & Coding Specifications
Clinical Context
A 6-month-old infant is referred to a pediatric genetics clinic after failing a newborn hearing screen and subsequent diagnostic auditory brainstem response (ABR) testing confirming bilateral sensorineural hearing loss. The pediatrician orders targeted molecular analysis of the entire GJB2 gene to identify pathogenic variants in connexin 26 that commonly cause autosomal recessive nonsyndromic hearing loss. A blood sample is collected in clinic and sent to a clinical molecular laboratory. The lab analyst performs the technical sequencing and bioinformatic analysis of the full GJB2 coding region and flanking intronic sequences under CPT 81252. Results are reported to the ordering clinician and genetic counselor who review findings with the family and plan follow-up management, cascade testing for parents, and referral to audiology and otolaryngology as appropriate.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | Use when reporting only the professional interpretation and report from the laboratory or pathologist separate from technical work. |
TC | Technical component |