Genetic Testing for Ophthalmologic Conditions
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Policy governing when genetic testing for inherited and other ophthalmologic conditions is considered medically necessary for Blue Cross Blue Shield North Carolina members, including testing required prior to gene therapy and investigational exclusions.
Title changed from 'Genetic Testing for Macular Degeneration' to 'Genetic Testing for Ophthalmologic Conditions.'
Added medical necessity coverage for RPE65 testing for retinal dystrophy prior to treatment with Luxturna.
Under 'when covered' section, expanded medical necessity criteria for individuals with clinical signs of an inherited retinal degeneration to include single gene or multi-gene panel testing.
Added CPT codes 81434 and 81406 (and later added 81404) to Billing/Coding section and subsequently added a set of additional molecular CPT codes planned for future updates.
Coverage Criteria
inv-01: When genetic testing is covered
Covered when ANY of the following are met:
See Note 1 for IRD types.
Testing must be performed and documented prior to approval of therapy.
inv-02: When genetic testing is not covered / investigational
Not covered when ANY of the following apply:
Routine genetic testing for genetically complex disorders like AMD is discouraged until genotype-specific management is proven.
Massively parallel strategies should be restricted to research studies at tertiary care facilities per AAO guidance.
inv-03: When Covered / Medical Necessity
Covered when specific clinical criteria are met and testing will impact management or eligibility for therapy
Added 7/28/20; testing is required before therapy approval.
Policy expanded to explicitly include these modalities (updated 8/15/23).
Aligns with AAO recommendations to use CLIA-approved labs and provide counseling and test reports to patients.
Whole exome sequencing (WES) and whole genome sequencing (WGS) for ophthalmologic conditions are considered investigational and are excluded from coverage for all applications.
Requests for whole-exome sequencing (WES) and whole-genome sequencing (WGS) for ophthalmologic conditions are considered investigational for all applications and should be restricted to research studies or tertiary care contexts per AAO guidance; these modalities are not covered outside of those settings.
Genetic testing for age-related macular degeneration (AMD) is considered investigational for all clinical applications and therefore not medically necessary for routine clinical management at this time. Professional guidance notes insufficient evidence that genotype-directed management improves outcomes and recommends confining AMD genotyping to research until benefit is demonstrated.
Routine genetic testing for genetically complex disorders such as age-related macular degeneration is not recommended and is considered not medically necessary for routine care. The AAO and ASRS advise against routine or direct-to-consumer testing and recommend avoiding massively parallel strategies (WES/WGS) for complex, late-onset disorders until genotype-specific management has proven clinical benefit.
Billing and Coding
Provider Actions and Requirements
RPE65 genetic testing required before Luxturna
Genetic testing demonstrating RPE65 variants must be performed and documented prior to treatment with voretigene neparvovec (Luxturna); testing is required for approval of therapy.
- Testing must establish RPE65-associated retinal dystrophy prior to Luxturna administration.
Use applicable molecular CPT codes; medical necessity may be required
Use the listed molecular CPT codes when submitting genetic testing services; inclusion in the policy does not guarantee reimbursement and BCBSNC may request medical records to determine medical necessity.
Prefer targeted/specific gene tests over broad strategies
Order targeted, specific gene testing (single-gene or focused multi-gene panels) that match the patient’s clinical presentation rather than broad, untargeted strategies; reserve whole-exome or whole-genome approaches for research or tertiary-care contexts.
- Prefer the most specific test(s) available given the patient’s clinical findings.
- Restrict massively parallel strategies (WES/WGS) to research studies at tertiary care facilities per AAO guidance.
Avoid unnecessary parallel testing; restrict WES/WGS
Sequence testing to avoid unnecessary parallel testing: order the most specific single-gene or panel test appropriate to the clinical picture and restrict whole-exome/genome sequencing to research/tertiary settings.
- Avoid unnecessary parallel testing—do not run multiple broad tests in parallel when a specific test is indicated.
- Restrict WES/WGS for ophthalmologic conditions to research at tertiary care centers unless otherwise specified.
Use CLIA-approved labs and provide genetic counseling and reports
Use Clinical Laboratory Improvement Amendments (CLIA)-approved laboratories for clinical genetic testing and ensure patients receive genetic counseling; provide a copy of each genetic test report to the patient.
- Provide counseling from a physician experienced in inherited disease or a certified genetic counselor.
- Use labs that report pathogenicity estimates based on literature and variant databases.
- Provide a copy of the genetic test report to the patient.
Include comprehensive medical records and supporting documentation when requested
When BCBSNC requests medical records to determine medical necessity, include all specific clinical information required (letters of support alone are often insufficient) to support the request.
- Include clinical findings, diagnostic test results, and documentation that testing will affect management, family counseling, or therapy eligibility.
- Letters of support may be useful but are not sufficient unless they contain all information needed to make a medical necessity determination.
WES/WGS considered investigational for ophthalmologic conditions
Do not request whole-exome sequencing (WES) or whole-genome sequencing (WGS) for routine clinical evaluation of ophthalmologic conditions; such requests are considered investigational and will be denied.
- WES/WGS for ophthalmologic conditions is considered investigational for all applications and is not covered.
Genetic testing for AMD is investigational and may be denied
Genetic testing for age-related macular degeneration (AMD) is considered investigational for all applications and may be denied; avoid routine genetic testing for AMD in clinical care.
- Genotyping for AMD should be confined to research studies until genotype-specific management is shown beneficial.
Documentation requests may trigger denial if insufficient
BCBSNC may request medical records to determine medical necessity; failure to provide sufficient documentation when requested can trigger denial of coverage.
- When records are requested, include specific information needed to make a medical necessity determination.
- Insufficient documentation in response to a records request can lead to denial.
Background
Inherited ophthalmologic disorders can affect any part of the eye and range from rare, high-impact vision‑loss conditions to findings that do not affect vision. Many causative genes have been mapped—over 270 genes are associated with inherited retinal diseases (IRDs)—and a genetic diagnosis can influence clinical management, family counseling, eligibility for gene therapy (for example, RPE65 testing is required prior to Luxturna), and enrollment in clinical trials. Professional guidance emphasizes use of CLIA‑approved laboratories, pre- and post-test genetic counseling, and selection of the most specific genetic test(s) appropriate to the clinical presentation rather than broad massively parallel approaches except in research or specialized tertiary settings.
Definitions
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