Genetic testing for hereditary hearing loss (GJB2/GJB6 sequencing, deletion/duplication, and multigene panels)
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Defines medical necessity criteria for GJB2 and GJB6 sequencing/deletion-duplication analysis and multigene panel testing to diagnose hereditary (syndromic or nonsyndromic) hearing loss for members of the health plan.
No material clinical or coverage changes in this revision.
Coverage Criteria
Medically necessary testing criteria
Covered when ALL of the following are met
Tests specified include GJB2 sequencing and/or deletion/duplication (81252, 81479) and/or GJB6 sequencing and/or deletion/duplication (81479) or multigene panel analysis (81430, 81431, 81254).
Investigational indications
Testing is considered investigational for indications other than establishing a diagnosis of hereditary hearing loss in a person with hearing loss and no known acquired cause. The policy specifies that GJB2 and GJB6 sequencing and/or deletion/duplication analysis or multigene panel analysis is medically necessary only when the member has hearing loss and there is no known acquired cause (for example, TORCH infections, bacterial infection, age-related or noise-related hearing loss). For any other clinical indication, testing is considered investigational and may be denied.
Covered Indications
Diagnosis of hereditary hearing loss in a member with hearing loss and no known acquired cause
Coding
| H90-H90.8 | Hearing loss diagnosis code range (example) |
| H90.A-H90.A3 | Hearing loss diagnosis codes (example) |
| H91.3-H91.93 | Other hearing loss diagnosis code range (example) |
Provider Actions & Billing Guidance
Coding and test documentation
Providers should reference current coding guidance and submit claims using the most up-to-date CPT and ICD coding. The tests, associated laboratories, CPT codes, and ICD codes shown in the policy are examples for informational purposes and are not comprehensive or a guarantee of coverage. For a comprehensive, registered list of tests and their billing codes, consult the Concert Platform prior to claim submission.
- Example CPTs referenced in this policy include: 81252 (GJB2 sequencing), 81479 (unlisted molecular pathology procedure), 81254 (GJB6 common variant analysis), 81430/81431 (large gene panels) — providers must verify current code applicability.
- Inclusion or exclusion of codes in this policy does not ensure coverage; always confirm coding and coverage rules with the payer and lab-specific reporting.
Recommended stepwise testing approach
If there is not a high suspicion for a specific gene etiology, a stepwise testing approach is reasonable. Two medically acceptable strategies are: start with targeted testing of GJB2 and GJB6 (including sequencing and deletion/duplication analysis) and proceed to a comprehensive multigene panel if those tests are negative; OR begin with a multigene panel that includes GJB2 and GJB6 as the initial test. Given the heterogeneity of hereditary hearing loss, these strategies may be considered reasonably equivalent.
- Stepwise option A: Perform GJB2 and GJB6 sequencing and deletion/duplication analysis first; if results are negative and clinical suspicion for hereditary hearing loss remains, proceed to a multigene panel.
- Stepwise option B: Perform a multigene panel (that includes GJB2 and GJB6) as the initial test for suspected autosomal recessive or autosomal dominant hereditary hearing loss.
Eligibility Requirements
This policy does not impose additional eligibility filters beyond the primary clinical criteria. Coverage is determined based on meeting the diagnostic criteria for hereditary hearing loss (hearing loss with no known acquired cause) and the specified testing types (GJB2/GJB6 sequencing and/or deletion/duplication analysis or a multigene hearing loss panel). Family history or other top-level eligibility nodes are not required by this policy.
There are no separate top-level eligibility requirements specified in this policy document. Decisions about testing eligibility should be made by confirming the member meets the covered indication—that is, presence of hearing loss with no known acquired cause—and that the requested test is one of the supported test types (single-gene GJB2/GJB6 testing or an appropriate multigene hearing loss panel).
Not Covered
Genetic testing for indications other than the diagnosis of hereditary hearing loss in a member with hearing loss and no known acquired cause is not covered (considered investigational). This includes requests where an acquired etiology has not been excluded or where the clinical indication does not align with the policy’s defined covered indication; such requests may be denied as investigational.
Background
Hereditary hearing loss may be syndromic (occurring with other clinical findings) or nonsyndromic (hearing loss without other physical signs). Nonsyndromic hearing loss accounts for approximately 70%–80% of genetically determined deafness, and the genetic causes are highly heterogeneous. The DFNB1 locus, which includes the GJB2 and GJB6 genes, accounts for an estimated ~50% of autosomal recessive nonsyndromic hearing loss. Before ordering genetic testing, evaluation should exclude acquired causes of hearing loss (for example, TORCH infections, bacterial infection, age-related or noise-related loss). For suspected autosomal recessive congenital/prelingual hearing loss, a stepwise approach is reasonable: begin with GJB2 and GJB6 testing and proceed to a multigene panel if negative, or alternatively obtain a multigene panel that includes GJB2/GJB6 as the first step.
Definitions
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