ModifiedArizona Complete HealthPolicy N/A

Concert Genetic Testing: Ophthalmology

Defines medical necessity and coverage criteria for genetic testing related to macular degeneration, inherited retinal dystrophies, and other genetically associated eye disorders for Arizona Complete Health members.

Policy Summary

PayerArizona Complete Health

PolicyConcert Genetic Testing: Ophthalmology

Policy CodePolicy N/A

Change TypeCriteria updates, terminology clarifications, coding removals

Effective DateN/A

Next Review DateN/A

Key ActionObtain prior authorization with documentation showing clinical findings consistent with rod-cone, cone-rod, chorioretinal degeneration, or macular dystrophy and ensure the panel includes at minimum the RPE65 gene.

SourceLink

POLICY UPDATE CHANGES

Policy name changed from Concert Genetic Testing: Eye Disorders to Concert Genetic Testing: Ophthalmology.

'Investigational' policy statements changed to 'current evidence does not support…'.

Inherited Retinal Dystrophies multigene panel criteria updated and RPE65-related criteria renamed/updated to align with guidelines and treatment eligibility.

Macular degeneration genetic testing stated as not supported by current evidence.

Policy name changed from Concert Genetic Testing: Eye Disorders to Concert Genetic Testing: Ophthalmology.

Inherited Retinal Dystrophies Multigene Panel Analysis criteria set name changed (formerly 'RPE65 Sequencing and/or Deletion/Duplication Analysis') and clinical criteria were updated to align with guidelines.

Retinitis Pigmentosa was removed from the 'Other Covered Eye Disorders' list because it is covered under the Inherited Retinal Dystrophies Multigene Panel Analysis criteria.

CPT code 81406 was removed from the Fulgent Genetics test in the Policy Reference Table and within Macular Degeneration criteria.

Investigational policy statements were reworded to 'current evidence does not support…'.

~500

Trek Health ingests and normalizes Transparency in Coverage data and payer policy updates to give provider organizations a clear view of how commercial reimbursement behaves across markets, payers, and services. Our platform transforms raw payer disclosures into structured intelligence that supports contract evaluation, payer negotiations, and service line strategy. By combining market benchmarks with ongoing policy visibility, Trek helps teams identify variability, risk, and opportunity in commercial reimbursement. The result is faster insight, stronger negotiating positions, and more informed financial decisions.

genes identified contributing to inherited eye diseases

1/3proportion of human diseases that may affect the eyes

RPE65required gene on IRD panels for coverage

Listed CPTsexample CPT codes referenced

multiplesections updated

annual/semi-annualreview cadence

Coverage Criteria

inv-01: Macular Degeneration - Current evidence does not support genetic testing

Covered when ALL of the following are met:

Macular Degeneration - Not supported: Current evidence does not support genetic testing for macular degeneration

CPT examples: 81404, 81408, 81479, 81599, 0205U

inv-02: Inherited Retinal Dystrophies - Covered indications

Covered when ALL of the following are met:

Coverage when clinical findings present and RPE65 included: Genetic testing via a multigene panel is medically necessary when the member has findings consistent with one of: (1) rod-cone degeneration (e.g., retinitis pigmentosa) OR (2) cone-rod degeneration (e.g., achromatopsia) OR (3) chorioretinal degeneration OR (4) macular dystrophy; AND the test includes at minimum the RPE65 gene.

CPT examples: 81404, 81406, 81408, 81434, 81479

inv-03: Inherited Retinal Dystrophies - Not supported indications

Not covered when ALL of the following are met:

Not supported: Current evidence does not support multigene panel testing for inherited retinal dystrophies via a multigene panel for all other indications not listed as covered.

CPT examples: 81404, 81406, 81408, 81434, 81479

inv-04: Other covered eye disorders - diagnostic testing

Covered when ALL of the following are met:

Diagnostic testing for specific rare eye disorders: Genetic testing to establish or confirm one of the following eye disorders to guide management is considered medically necessary when the member demonstrates clinical features consistent with the disorder: Duane syndrome; familial exudative vitreoretinopathy; aniridia; X-linked congenital retinoschisis; or presenile cataracts.

Clinical feature sources: GeneReviews, OMIM, Genetics Home Reference. Follow AAO recommendations for testing and counseling.

inv-05: Updated criteria sets and renaming

Named updates: Inherited Retinal Dystrophies Multigene Panel Analysis criteria were renamed (formerly 'RPE65 Sequencing and/or Deletion/Duplication Analysis') and clinical criteria were updated to align with guidelines; Macular Degeneration criteria were updated to remove CPT 81406 and other minor terminology updates were made.

Retinitis pigmentosa was removed from the 'Other Covered Eye Disorders' list because it is covered under the Inherited Retinal Dystrophies Multigene Panel Analysis criteria.

Routine genetic testing for complex, multifactorial conditions such as age-related macular degeneration (AMD) is not supported by current evidence and is not considered medically necessary. The policy explicitly states: “Current evidence does not support genetic testing for macular degeneration” with example CPTs including 81404, 81408, 81479, 81599, 0205U. Testing requests for AMD will be evaluated in light of this guidance and may be denied when submitted as routine genetic testing for disease prediction or screening.

The list of Other Covered Eye Disorders was revised to remove Retinitis Pigmentosa from that section because retinitis pigmentosa is now covered under the Inherited Retinal Dystrophies Multigene Panel Analysis criteria set. This change aligns the disorder with the updated IRD panel criteria and avoids duplication across criteria sets.

Genetic testing via multigene panels for inherited retinal dystrophies (IRD) and genetic testing for macular degeneration are covered only as specified in the policy. Multigene panel testing for IRD is considered medically necessary when the member has clinical findings consistent with rod-cone degeneration (e.g., retinitis pigmentosa), cone-rod degeneration, chorioretinal degeneration, or macular dystrophy, and when the panel includes at minimum the RPE65 gene. Conversely, multigene panel testing for IRD for indications other than these specified clinical findings, and genetic testing for macular degeneration outside the listed indications, are not supported by current evidence and may be denied.

Policy language formerly labeled as “Investigational” has been updated for clarity. Where the evidence base does not support a test, statements now read that the “current evidence does not support” the use of that genetic test. This rewording is applied across the policy to describe tests and indications that lack sufficient evidence for coverage.

Coding

Example/Referenced CPT CodesCPT

81404	Inherited retinal dystrophy / multigene panel (example listed)
81406	Panel code referenced in some IRD tests (removed in certain edits)
81408	Larger multigene panel code (example)
81479	Unlisted molecular pathology procedure
81599	Unlisted molecular pathology procedure (used in macular degeneration examples)
0205U	Proprietary lab test code (example: Vita Risk)
81434	Inherited Retinal Dystrophies Multigene Panel Analysis

Example ICD-10 CodesICD-10

H35.30	Macular degeneration, unspecified
H35.3110	Nonexudative age-related macular degeneration, right eye
Z13.5	Encounter for screening for eye and ear disorders
H35.50	Hereditary retinal dystrophy, unspecified

Removed CPT Codes / Policy Reference TableCPTNot Covered

81406

CPT code removed from Fulgent Genetics test in Policy Reference Table

Provider Actions & Requirements

Prior Authorization

Prior Authorization Required for IRD Multigene Panels

Prior authorization is required for inherited retinal dystrophies (IRD) multigene panel testing. Submit a prior authorization request before testing to avoid claim denials or delays.

Affected CPT codes: 81404, 81406 (removed from some references—see coding change), 81408, 81434, 81479
Minimum gene requirement for IRD panels: RPE65 must be included

Prior Authorization

Prior Authorization and Coverage Caveat

Prior authorization is required and coverage is limited to specific clinical indications. Testing for IRD multigene panels is considered medically necessary only when the member has clinical findings consistent with rod-cone degeneration, cone-rod degeneration, chorioretinal degeneration, or macular dystrophy, and when the panel includes the RPE65 gene. Genetic testing for macular degeneration is not supported by current evidence and is likely to be denied.

Medical necessity indications for IRD multigene panels: see clinical criteria (rod-cone degeneration, cone-rod degeneration, chorioretinal degeneration, macular dystrophy)
Macular degeneration testing codes called out: 81404, 81408, 81479, 81599, 0205U — testing for age-related macular degeneration is not supported

Background

Inherited eye disorders are genetically heterogeneous, with many contributing genes; in contrast, age-related macular degeneration (AMD) is a multifactorial disease for which routine genetic testing has limited clinical utility. The policy states that genetic testing for macular degeneration is not supported by current evidence, reflecting the limited ability of such testing to predict progression or change management. For inherited retinal dystrophies, targeted multigene panel testing that includes RPE65 is indicated when clinical findings are consistent with specified IRD phenotypes, particularly because identification of certain biallelic pathogenic variants (e.g., in RPE65) may affect eligibility for gene-directed therapies.

Definitions

Age-related Macular Degeneration (AMD) definition

DefinitionLeading cause of blindness and irreversible vision loss among older adults (greater than age 65 years).

Typical age groupPrimarily affects adults >65 years of age.

Clinical impactCauses central vision loss that can progress to irreversible blindness.

Retinal dystrophies (RDs) definition

DefinitionDegenerative diseases of the retina with marked clinical and genetic heterogeneity; vision impairment ranges from poor peripheral or night vision to complete blindness, and severity usually increases with age.

Clinical featuresMay present with peripheral vision loss, night blindness, progressive vision decline.

Policy Summary

PayerArizona Complete Health

PolicyConcert Genetic Testing: Ophthalmology

Policy CodePolicy N/A

Change TypeCriteria updates, terminology clarifications, coding removals

Effective DateN/A

Next Review DateN/A

SourceLink

On This Page

Billing Rule

Coding Change May Affect Claims

A coding update may affect claims processing. CPT code 81406 was removed from certain test references and criteria; verify the codes submitted on claims match the current payer coding guidance and the test performed.

Removed from policy reference table and criteria: CPT 81406 (effective update noted in revision history)
Confirm submitted CPT codes align with the laboratory invoice and current policy

Documentation Required

Required Clinical & Genetic Documentation

Required clinical and genetic documentation must be provided with the prior authorization and retained for claims: clinical findings consistent with the covered eye disorder, documentation that RPE65 is included on the panel, and genetic test reports showing variant classification and zygosity/phase when applicable.

Clinical documentation: signs/symptoms and findings that meet the IRD criteria (e.g., findings consistent with retinitis pigmentosa, achromatopsia, chorioretinal degeneration, or macular dystrophy)
Genetic documentation: laboratory report with gene list demonstrating RPE65 included, variant classifications (pathogenic/likely pathogenic), and evidence of trans configuration when two RPE65 variants are present
Counseling documentation: note that patient received genetic counseling or referral to a genetics expert

Documentation Required

Clinical Features Documentation for Other Covered Eye Disorders

When requesting coverage for other covered eye disorders, include clinical features that align with the disorder per established resources (GeneReviews, OMIM, Genetics Home Reference, etc.). Approval may be appropriate for rare conditions when clinical features support testing.

Examples of disorders with known genetic association: Duane Syndrome; Familial Exudative Vitreoretinopathy; Aniridia; X-linked Congenital Retinoschisis; Presenile Cataracts
Clinical features should be documented in the record and cited from authoritative resources when possible

Denial Risk

Documentation and Coverage Alignment Reminder

Ensure documentation submitted with prior authorization and claims aligns with policy coverage criteria. Lack of required clinical or genetic documentation may result in denial. Keep copies of genetic counseling notes and laboratory reports in the medical record.

Denial risk is elevated when clinical findings in the record do not meet the policy's IRD criteria
If two RPE65 variants are reported, documentation of trans configuration (phase) is required to establish biallelic disease

Step Therapy

Step Therapy Not Applicable

No explicit step therapy requirements apply to the genetic tests discussed in this policy. Step therapy is not specified for these genetic tests within this document.

Genetic characteristicsMarked genetic heterogeneity — many different genes can cause retinal dystrophies.

RPE65 definition and role

Gene/ProductRPE65 encodes an all-trans–retinal isomerase (retinal pigment epithelium-specific protein 65-kD) expressed in the retinal pigment epithelium (RPE).

FunctionResponsible for regeneration of 11-cis-retinol in the visual cycle (key enzyme in visual pigment regeneration).

Clinical relevancePathogenic biallelic variants cause RPE65-mediated retinal dystrophy and are required to establish diagnosis for therapy eligibility (e.g., voretigene neparvovec / LUXTURNA).

Gene therapy definition

DefinitionA treatment that changes the expression of genes to treat disease, e.g., by replacing or inactivating a malfunctioning gene or introducing a new gene.

DeliveryGenes may be introduced into human cells through a vector, usually a virus.

PurposeUsed to correct or modify genetic causes of disease (therapeutic gene replacement or inactivation).

Inherited Retinal Degenerations definition (AAO guidance)

DefinitionGenetically heterogeneous retinal disorders; clinical assessment and genetic testing guidance reference AAO Guidelines and GeneReviews.

Guidance sourcesSee AAO Guidelines on Clinical Assessments of Patients with Inherited Retinal Degenerations and GeneReviews for testing recommendations.

Testing implicationPanel testing recommendations and clinical assessment should follow professional society guidance (AAO/Task Force).

Macular Degeneration definition reference

TermMacular Degeneration (age-related macular degeneration).

Guideline referencesTesting guidance referenced to ASRS Genetics Task Force report and the Age-Related Macular Degeneration Preferred Practice Pattern.

Policy implicationPolicy states current evidence does not support routine genetic testing for AMD (see coverage criteria).