CurrentCommunity Health Plan WashingtonPolicy N/A

Genetic Testing for Hereditary Hearing Loss (GJB2/GJB6 and Multigene Panels)

Criteria for when GJB2 and GJB6 sequencing and/or deletion/duplication analysis or multigene hearing-loss panels are considered medically necessary for diagnosing hereditary hearing loss; affects providers ordering genetic testing for Community Health Plan Washington members.

Policy Summary

PayerCommunity Health Plan Washington

PolicyGenetic Testing for Hereditary Hearing Loss (GJB2/GJB6 and Multigene Panels)

Policy CodePolicy N/A

Change TypeNo material changes

Effective DateN/A

Next Review DateN/A

Key ActionObtain and document pre-test and post-test genetic counseling and confirm no known acquired cause of hearing loss when ordering testing.

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

GJB2/GJB6Primary genes highlighted for testing (DFNB1 locus)

~65%Prelingual hearing loss due to genetics (estimate)

≈50%DFNB1 locus contribution

ReferencedCPT codes cited (examples)

Coverage Criteria for Genetic Testing in Hearing Loss

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GJB2/GJB6 sequencing and/or deletion/duplication or multigene panel — medically necessary

Covered when ALL of the following are met:

Diagnostic criteria for testing: 1) Member/enrollee has hearing loss; AND 2) There is no known acquired cause of the hearing loss (e.g., TORCH infections [Toxoplasma gondii, other agents, rubella, cytomegalovirus, herpes simplex virus], bacterial infection, age-related or noise-related hearing loss).

Intended to establish diagnosis of hereditary hearing loss.

Not supported/other indications

Not considered supported:

Unsupported indications: Use of GJB2 and/or GJB6 sequencing and/or deletion/duplication analysis or multigene panel analysis to establish a diagnosis of hereditary hearing loss for indications other than those meeting the medically necessary criteria is not supported by current evidence.

Ordering for other indications may be denied.

Testing to establish hereditary hearing loss is limited to situations where the member has documented hearing loss and there is no known acquired cause (for example, TORCH infections, bacterial infection, age-related or noise-related hearing loss). Tests ordered for other indications are not supported by current evidence and may be denied. Providers should ensure clinical documentation excludes acquired etiologies before submitting requests for GJB2/GJB6 sequencing, deletion/duplication analysis, or multigene hearing-loss panels.

Sequencing and deletion/duplication analysis of GJB2 and GJB6 and/or broader multigene hearing-loss panels are intended to establish a genetic diagnosis of hereditary hearing loss when the clinical criteria are met. Current guidance supports a tiered approach: when family history or clinical features do not point to a single gene, start with a comprehensive hearing-loss gene panel rather than single-gene testing. Use of GJB2/GJB6 testing or multigene panels outside the stated diagnostic criteria is not supported by available evidence.

Coding and Billing Examples

Common billing CPT codes cited in examplesCPT

81252	GJB2 sequencing (example billing code listed)
81254	GJB6 sequencing (example billing code listed)
81430	Targeted genomic sequence analysis (example panel code listed)
81431	Multigene panel sequencing (example panel code listed)
81479	Unlisted molecular pathology procedure (example billing code listed)

Example diagnosis code ranges referencedICD-10

H90-H90.8	ICD-10 range referenced for hearing loss diagnoses
H90.A-H90.A3	ICD-10 codes referenced
H91.3-H91.93	ICD-10 codes referenced

Provider Requirements and Operational Notes

Prior Authorization

Prior Authorization Required

Prior authorization is required for the referenced genetic test CPTs. Obtain prior authorization before ordering any of the listed hereditary hearing loss genetic tests to avoid claim denials or delayed payment.

Prior auth required prior to testing for multigene panels and single-gene sequencing/deletion-duplication when billed with the CPTs above.
Confirm plan-specific prior authorization procedures on the Concert Platform or payer portal.

Step Therapy

Recommended Tiered Testing Approach (ACMG)

A tiered testing approach is recommended: begin with targeted testing guided by clinical presentation and family history; if results are negative or inconclusive, proceed to broader multigene panel testing per ACMG guidance. Use the least complex test that can address the clinical question first.

Tier 1: targeted single-gene testing when a specific gene is strongly suspected (e.g., GJB2/GJB6 when DFNB1 suspected).
Tier 2: comprehensive hearing loss multigene panel when phenotype is nonspecific or initial targeted testing is negative.

Documentation Required

Genetic Counseling and Required Clinical Documentation

Genetic counseling (pre-test and post-test) is strongly advised and should be documented in the medical record. Counseling should cover the purpose of testing, possible outcomes including secondary/incidental findings, and a plan for returning results.

Document that informed consent and counseling occurred prior to testing.
Include clinical indication, family history, and rationale for test selection in the clinical record to support medical necessity.

Denial Risk

Denial Risk for Unsupported Indications

Tests ordered without supportive clinical indication or documentation risk denial. Claims for genetic testing may be denied if medical necessity is not established, if prior authorization was not obtained when required, or if the indication falls outside the policy criteria.

Denial scenarios include: lack of documented hearing loss or presence of an acquired cause, missing prior authorization, or absent clinical justification for broad panel testing when a targeted test would suffice.
Submitters should include relevant ICD-10 codes (e.g., H90.*/H91.* where appropriate), clinical notes, and prior auth reference numbers with claims to reduce denial risk.

Definitions

inv-12: DFNB1 locus — define DFNB1, GJB2, GJB6 and relevance

DFNB1 locusGenetic locus that includes GJB2 (encodes connexin 26) and GJB6 (encodes connexin 30); estimated to account for ~50% of autosomal recessive nonsyndromic hearing loss and 15–40% of deaf individuals in various populations.

GJB2Gene encoding the gap junction protein connexin 26; primary contributor to DFNB1-associated hearing loss.

GJB6Gene encoding the gap junction protein connexin 30; part of the DFNB1 locus implicated in nonsyndromic hearing loss.

Clinical relevanceDFNB1 variants are a common cause of hereditary nonsyndromic hearing loss; testing of GJB2/GJB6 (sequencing and deletion/duplication) is a first-line consideration when hereditary hearing loss is suspected.

inv-13: Pre-test and post-test genetic counseling — define counseling expectations and scope

Purpose of counselingPre-test and post-test genetic counseling should facilitate informed decision-making, address the possibility of secondary or incidental findings, and include a plan for returning results prior to testing.

When advisedCounseling is strongly advised when ordering genetic testing to identify a cause of hereditary hearing loss and documentation of counseling should be provided with testing requests.

ScopeCounseling covers discussion of test benefits, limitations, potential outcomes (including incidental findings), and implications for the individual and family, and helps plan result disclosure and follow-up.