Summary & Overview
CPT 81254: GJB6 (Connexin 30) Targeted Genetic Test
CPT code 81254 represents a laboratory molecular genetic test that detects common variants in the GJB6 gene (connexin 30). This code captures the technical performance of a targeted genetic assay used in clinical diagnostics for conditions associated with GJB6 alterations. Nationally, molecular genetic testing codes like 81254 are important for clinical decision-making, diagnosis of hereditary conditions, and for laboratory billing and reimbursement frameworks.
Key payers covered in this overview include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a concise synthesis of what the code represents, the clinical context for testing GJB6, and what to expect in payer coverage discussions. The publication also outlines typical sites of service and common billing modifiers associated with molecular diagnostic services when available.
This summary prepares readers to review benchmarks and policy considerations, including payer coverage patterns, billing practices for molecular diagnostics, and the clinical relevance of detecting GJB6 variants. Data not available in the input is noted where applicable.
Billing Code Overview
CPT code 81254 describes a laboratory test performed by a lab analyst to detect common changes in the gene for gap junction protein, beta 6, 30kDa (connexin 30), also known as GJB6. The service is a molecular genetic test that analyzes DNA for specific, commonly occurring variants in the GJB6 gene.
Service Type: Molecular genetic testing (technical component)
Typical Site of Service: Clinical laboratory or reference molecular diagnostics laboratory
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Clinical & Coding Specifications
Clinical Context
A patient with suspected hereditary nonsyndromic hearing loss or a family history of GJB6-related deafness is referred for molecular testing. The typical patient is an infant, child, or adult presenting with congenital or early-onset sensorineural hearing loss, or an individual with unexplained bilateral hearing impairment after initial audiology evaluation. The clinical workflow: an audiologist documents the hearing deficit and referring otolaryngologist or genetic counselor orders targeted molecular testing for GJB6 variants. A specimen (usually peripheral blood or buccal swab) is collected at an ambulatory clinic or hospital outpatient lab. The specimen is sent to a molecular diagnostics laboratory; a lab technologist performs the technical assay to detect common changes in the GJB6 gene using methods such as targeted deletion testing or PCR-based analysis. The laboratory issues a technical report; if the ordering provider requests, a board-certified molecular geneticist provides an interpretive/professional report. Results are returned to the ordering provider for genetic counseling and care planning. Typical site of service: outpatient clinic, hospital outpatient laboratory, or reference molecular diagnostics laboratory.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | Use when billing only the interpretation/professional component of a molecular test if separated from the technical component. |