Concert Genetic Testing: Eye Disorders V1.2025
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Defines medical necessity, investigational status, and criteria for genetic testing for macular degeneration, inherited retinal dystrophies, and other genetically-associated eye disorders for members of the payer network.
Macular Degeneration: Removed CPT code 81406 from Fulgent Genetics test in Policy Reference Table and within criteria.
Clinical criteria for Inherited Retinal Dystrophies Multigene Panel Analysis were updated and the criteria set name changed (formerly 'RPE65 Sequencing and/or Deletion/Duplication Analysis').
Other Covered Eye Disorders: Removed 'Retinitis Pigmentosa' from disorders list (covered under Inherited Retinal Dystrophies criteria).
A glaucoma-related criteria set was retired due to low order and claim volume.
Inherited Retinal Dystrophies Multigene Panel Analysis: updated access date for online reference.
Coverage Criteria
Inherited retinal dystrophies — medically necessary
Covered when ALL of the following are met
Panel CPTs: 81404, 81406, 81408, 81434, 81479
Macular degeneration — investigational
Other covered eye disorders — medically necessary when clinically indicated
Covered when ALL of the following are met
Other eye disorders not listed are evaluated using the General Approach to Genetic and Molecular Testing policy.
Updated and retired criteria sets
Policy updates affecting coverage criteria include:
Covered when criteria in renamed panel are met per policy; details of specific genetic/phenotypic criteria are in other sections not included in this excerpt.
Retired criteria no longer apply.
Providers should reference updated policy reference tables for current acceptable codes and tests.
Genetic testing for macular degeneration is classified as investigational and is excluded from medical necessity coverage. The policy specifically lists CPT codes 81404, 81408, 81479, 81599, and 0205U as investigational for macular degeneration testing and notes that such testing may be denied on that basis.
The policy removes Retinitis Pigmentosa from the 'Other Covered Eye Disorders' list because it is now addressed under the Inherited Retinal Dystrophies Multigene Panel Analysis criteria set (formerly titled RPE65 sequencing/deletion-duplication analysis). Providers should therefore follow the inherited retinal dystrophy criteria when requesting genetic testing for retinitis pigmentosa.
Routine genetic testing for genetically complex, multifactorial disorders such as age-related macular degeneration (AMD) is not supported by current evidence and is considered investigational. Guideline statements cited in the policy note that routine AMD genotyping does not presently change management (including use of AREDS supplements or anti-VEGF treatment decisions) and that testing should be limited to CLIA-certified laboratories with appropriate expertise if performed.
The excerpt does not list a separate, explicit 'not medically necessary' statement for every test; however, the policy documents material changes and retirements that affect coverage. Tests and codes removed from the policy reference table (for example, removal of CPT 81406 from a previously listed Fulgent Genetics macular degeneration test) and retired criteria sets may result in those tests no longer being covered or requiring updated coding and prior authorization.
Coding and Test References
| H35.30 | Macular degeneration, unspecified |
| H35.3110 | Nonexudative age-related macular degeneration, right eye |
| H35.50 | Hereditary retinal dystrophy |
| H35.54 | Other hereditary retinal dystrophy |
Provider Actions and Billing Guidance
Prior authorization: confirm clinical indication and panel content for inherited retinal dystrophy panels
Order multigene panel testing for inherited retinal dystrophies only when the member has clinical findings consistent with rod-cone degeneration, cone-rod degeneration, chorioretinal degeneration, or macular dystrophy, and ensure the panel includes at minimum the RPE65 gene.
- Clinical findings must match one of the listed phenotypes (rod‑cone, cone‑rod, chorioretinal, or macular dystrophy).
- Panel must include the RPE65 gene as a minimum.
Verify code coverage and obtain prior authorization if applicable
Verify current covered CPT codes before ordering and obtain prior authorization when required; note that some codes previously listed (for example CPT 81406 for a Fulgent Genetics macular degeneration test) were removed from the policy reference table and within criteria.
- Check the updated policy reference table for acceptable/replacement test codes.
- Obtain prior authorization for the replacement/updated test if required by the plan.
Testing stewardship: order the most specific test(s) for the clinical presentation
Avoid unnecessary parallel or broad testing; order the most specific genetic test(s) appropriate to the patient's clinical findings and reserve massively parallel strategies (WES/WGS) for research or tertiary care settings when appropriate.
- Prefer targeted panels tailored to the suspected phenotype over routine broad exome/genome testing.
- Restrict whole‑exome or whole‑genome sequencing to research studies or tertiary care where indicated.
No step therapy requirements specified
There are no explicit step therapy requirements described in this policy excerpt.
Document pathogenic RPE65 variants and confirm trans configuration when two variants are found
When RPE65 testing identifies pathogenic or likely pathogenic variants, document that variants are present in both copies (biallelic) and—if two variants are detected—provide additional documentation confirming they are in trans configuration to establish RPE65‑mediated disease.
- Report pathogenic or likely pathogenic variants present in both alleles to establish a biallelic diagnosis.
- If two variants are detected by sequencing, include evidence (e.g., familial testing or phase determination) that they are in trans.
Use CLIA‑certified labs, share reports with patients, and involve inherited disease experts
Use CLIA‑certified laboratories for clinical genetic testing, provide a written copy of the genetic test report to the patient, and involve a physician with inherited disease expertise or a genetic counselor for interpretation and counseling.
- Ensure testing is performed in a CLIA‑approved laboratory.
- Provide the patient with a copy of the genetic test report.
- Engage a physician experienced in inherited disease or a certified genetic counselor for pre‑ and post‑test counseling.
Provide guideline‑based clinical documentation to support testing
Support genetic testing decisions and prior authorization with clinical documentation referencing current guideline‑based criteria (for example AAO and ASRS guidance) and the updated test panel composition listed in the policy.
- Include citation(s) to relevant guideline recommendations and the clinical findings that meet policy criteria.
- Document the specific genes/panel composition ordered and how it aligns with policy requirements.
Denial risk: genetic testing for macular degeneration is investigational
Do not expect coverage for genetic testing for macular degeneration; testing for AMD using listed CPTs (81404, 81408, 81479, 81599, 0205U) is considered investigational and claims may be denied for these indications.
- Avoid ordering these tests for macular degeneration unless part of an approved research protocol or other covered indication.
Retired or removed tests/codes may lead to claim denials
Tests or criteria sets retired or removed from the policy reference table (for example CPT 81406 removed from a listed Fulgent Genetics macular degeneration test) may no longer be covered; submitting claims using retired/removed codes or for retired tests may trigger denials or require updated coding and authorization.
- Confirm the test and CPT code are still listed as covered in the current policy before submission.
- If a code was removed, identify the updated/replacement test and obtain prior authorization as needed.
Background
Inherited and other genetic eye diseases are genetically heterogeneous: the policy notes that hundreds of genes are implicated in inherited retinal disorders and that the clinical presentation ranges from night or peripheral vision loss to progressive degenerative disease and blindness. By contrast, age-related macular degeneration (AMD) is described as a multifactorial condition for which routine genetic testing currently has limited clinical utility; testing is investigational unless a clear, guideline-supported genotype-directed intervention exists. For inherited retinal dystrophies, the policy requires specific clinical findings and inclusion of the RPE65 gene on multigene panels to meet medical necessity.
Definitions
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