Genetic Testing for Ophthalmologic Conditions
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Criteria and coverage stance for genetic testing related to inherited and other ophthalmologic disorders for Blue Cross Blue Shield of North Carolina members and their providers.
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 in the 'When Covered' section.
Added coverage criteria statement #2 under 'when covered' and clarified Note 2 to specify 2 tests.
Billing/Coding section updated with additional CPT codes (e.g., 81434, 81406, later 81404 and other codes).
Coverage Criteria and Policy Stance
Covered when medically necessary
Coverage is provided when medical criteria below are met.
See policy 'When Genetic Testing for Ophthalmologic Conditions is covered' item 1 ([[chunk 5]]).
See policy 'When Genetic Testing for Ophthalmologic Conditions is covered' item 2 ([[chunk 5]]).
RPE65 testing required prior to Luxturna (see item 3 in chunk 5).
When Covered (selected)
Selected coverage statements and clinical rationale cited in this portion of the policy:
Added 7/28/20 per policy implementation/updates (chunk 34).
AAO guidance supports panel-based testing as an efficient initial test; policy edited/expanded 8/15/23 (chunks 20, 34).
Genetic testing for age-related macular degeneration (AMD) is considered investigational for all applications and is not covered.
Whole exome sequencing (WES) and whole genome sequencing (WGS) for ophthalmologic conditions are considered investigational for all applications and are not covered; this investigational status for WES/WGS was added to the policy on 7/28/20.
Restating the policy position: WES and WGS are investigational for all ophthalmologic applications and therefore are not covered under this policy.
Routine genetic testing for genetically complex disorders—such as AMD—is not supported for altering clinical management or treatment recommendations and is discouraged until prospective evidence shows treatment changes improve outcomes; professional guidance therefore does not support routine genotyping for these complex conditions.
Applicable Service Codes and Coding Notes
| 81401 | Molecular pathology procedure, Level 1 (listed as applicable service code) |
| 81404 | CPT listed as applicable service code (added 9/4/24) |
| 81405 | CPT listed as applicable service code |
| 81406 | CPT listed as applicable service code (added 7/28/20) |
| 81408 | CPT listed as applicable service code |
| 81415 | CPT listed as applicable service code (added 10/15/25 planned update) |
| 81416 | CPT listed as applicable service code (added 10/15/25 planned update) |
| 81417 | CPT listed as applicable service code (added 10/15/25 planned update) |
| 81425 | CPT listed as applicable service code (added 10/15/25 planned update) |
| 81426 | CPT listed as applicable service code (added 10/15/25 planned update) |
Provider Requirements, Documentation, and Billing Guidance
Prior authorization / RPE65 testing required before Luxturna
Genetic testing for RPE65-associated retinal dystrophy is required prior to treatment with voretigene neparvovec (Luxturna); obtain and document the RPE65 test result before administering therapy.
- This requirement is stated in the policy 'When Genetic Testing for Ophthalmologic Conditions is covered' and was added 7/28/20.
Coding listed but does not guarantee reimbursement; medical necessity review may be required
List any applicable CPT codes on the request (e.g., 81401, 81404, 81405, 81406, 81408, 81415-81417, 81425-81426, 81434, 81479) but note that inclusion of a code does not guarantee reimbursement; BCBSNC may require medical-records review to determine medical necessity.
- Inclusion of codes in the Billing/Coding section does not guarantee reimbursement.
- BCBSNC directs providers to administrative reimbursement guidelines on the BCBSNC website.
Require genetic confirmation of RPE65 mutation before Luxturna
Obtain genetic confirmation of an RPE65 pathogenic variant before proceeding with Luxturna; document the confirming test result in the medical record as a prerequisite to coverage and treatment.
- Policy language: 'genetic testing of RPE65 prior to treatment with Luxturna ... is required.'
- Added explicitly to the 'When Covered' section on 7/28/20.
No explicit step therapy requirements specified
No additional step-therapy sequence or other prior-step treatments are specified in this policy section; follow the documented coverage criteria and therapy-specific requirements (e.g., RPE65 confirmation) instead.
- Policy states 'No explicit step therapy requirements are detailed' in this part of the document.
- Follow the 'When Covered' criteria for required testing prior to gene therapy.
Use CLIA‑approved labs and provide genetic counseling and test reports
Use Clinical Laboratories Improvement Amendments (CLIA)-approved laboratories for clinical genetic testing and ensure patients receive genetic counseling from a physician experienced in inherited disease or a certified genetic counselor; provide a copy of each genetic test report to the patient.
- AAO guideline in the policy: use CLIA-approved laboratories and ensure counseling by a physician with expertise in inherited disease or a certified genetic counselor.
- Provide test reports to the patient so they can seek mechanism-specific information (e.g., gene-specific trials).
Include full clinical details and test reports when records are requested
When BCBSNC requests medical records to determine medical necessity, include all specific information needed (test reports, clinical findings, and supporting documentation); letters of support alone are not sufficient unless they include the required clinical details.
- Policy: 'When medical records are requested, letters of support and/or explanation are often useful, but are not sufficient documentation unless all specific information needed to make a medical necessity determination is included.'
Investigational tests (AMD, WES/WGS) will be denied
Do not submit requests for genetic testing for age-related macular degeneration or for WES/WGS for ophthalmologic conditions—these are considered investigational and will be denied.
- Policy: 'Genetic testing for age-related macular degeneration is considered investigational for all applications.'
- Policy: 'whole exome sequencing (WES) and/or whole genome sequencing (WGS) is considered investigational for all applications' and was added 7/28/20.
Medical records may be requested; insufficient documentation risks denial
BCBSNC may request medical records to determine medical necessity; failure to provide sufficient documentation may result in denial of coverage.
- Policy: 'BCBSNC may request medical records for determination of medical necessity.'
- Insufficient documentation (absence of required clinical details and test reports) can lead to denial.
Background and Policy Scope
Genetic eye diseases affect multiple ocular structures and range from benign to vision‑threatening. Many causative genes have been identified; inherited retinal diseases (IRDs) are genetically heterogeneous with over 270 associated genes. Genetic testing can confirm diagnosis and inform management, and it is required in specific situations such as confirmation of RPE65 mutations prior to voretigene neparvovec (Luxturna) administration.
Key Definitions
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