ModifiedAmbetter NevadaPolicy N/A

Concert Genetic Testing: Ophthalmology

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Defines medical necessity and coverage guidance for genetic testing related to macular degeneration, inherited retinal dystrophies, and other genetically associated eye disorders for members of Ambetter Nevada.

Policy Summary

PayerAmbetter Nevada

PolicyConcert Genetic Testing: Ophthalmology

Policy CodePolicy N/A

Change TypeCriteria update and coding revision

Effective DateN/A

Last ReviewNov 20, 2025

Next Review DateN/A

Key ActionObtain prior authorization for multigene panel testing for inherited retinal dystrophies and ensure the panel includes RPE65 when clinically indicated.

SourceLink

POLICY UPDATE CHANGES

Macular Degeneration policy statement clarified to 'Current evidence does not support genetic testing for macular degeneration' and associated CPT codes listed.

Inherited Retinal Dystrophies Multigene Panel Analysis criteria updated to require inclusion of RPE65 and to specify when multigene panel testing is medically necessary.

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

Glaucoma criteria: retired a criteria set based on rarity of testing (low order volume and low claim volume).

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

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ModifiedAmbetter NevadaPolicy N/A

Concert Genetic Testing: Ophthalmology

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Know when Ambetter Nevada releases new policies or updates existing guidance.

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Policy Summary

PayerAmbetter Nevada

PolicyConcert Genetic Testing: Ophthalmology

Policy CodePolicy N/A

Change TypeCriteria update and coding revision

Effective DateN/A

Last ReviewNov 20, 2025

Next Review DateN/A

Key ActionObtain prior authorization for multigene panel testing for inherited retinal dystrophies and ensure the panel includes RPE65 when clinically indicated.

SourceLink

POLICY UPDATE CHANGES

Macular Degeneration policy statement clarified to 'Current evidence does not support genetic testing for macular degeneration' and associated CPT codes listed.

Inherited Retinal Dystrophies Multigene Panel Analysis criteria updated to require inclusion of RPE65 and to specify when multigene panel testing is medically necessary.

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

Glaucoma criteria: retired a criteria set based on rarity of testing (low order volume and low claim volume).

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

~500genes identified

leading causeAMD burden

RPE65required gene on panels

81406 removedcoding change

V1.2025policy version

Coverage Criteria

Macular Degeneration - Not supported

Covered stance for macular degeneration

Macular Degeneration: Current evidence does not support genetic testing for macular degeneration.

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

Inherited Retinal Dystrophies — medically necessary when criteria met

Inherited Retinal Dystrophies Multigene Panel Analysis

Medical necessity for multigene panel

Clinical phenotype: 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.
Gene inclusion: The test includes, at a minimum, the RPE65 gene.

Inherited Retinal Dystrophies — not supported otherwise

Inherited Retinal Dystrophies - not supported for other indications

Not supported indications: Current evidence does not support multigene panel genetic testing for inherited retinal dystrophies for all other indications not listed as medically necessary.

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

Other genetic eye disorders — conditional coverage

Other Covered Eye Disorders

Other disorders medical necessity: Genetic testing to establish or confirm listed rare eye disorders is considered medically necessary when the member demonstrates clinical features consistent with the disorder.

Listed examples: Duane Syndrome; Familial Exudative Vitreoretinopathy; Aniridia; X-linked Congenital Retinoschisis; Presenile Cataracts.

Inherited Retinal Dystrophies Multigene Panel Analysis (renamed/updated)

Policy updates and criteria set changes include:

Inherited Retinal Dystrophies Multigene Panel Analysis: Criteria set renamed from 'RPE65 Sequencing and/or Deletion/Duplication Analysis' and clinical criteria updated to align with guidelines; Retinitis Pigmentosa moved into this criteria set.

Administrative and coding updates included (see policy reference table).

Glaucoma criteria (retired set)

Glaucoma-related testing:

Glaucoma testing: A criteria set was retired due to rarity of testing (low order volume and low claim volume).

Providers should refer to remaining criteria or contact the plan for prior authorization guidance.

This policy takes a mixed coverage stance across ophthalmic genetic testing: genetic testing for age-related macular degeneration (AMD) is not supported by current evidence, while genetic testing for specific inherited retinal dystrophies via multigene panel is medically necessary only when defined clinical criteria are met. For AMD, the policy states: Current evidence does not support genetic testing for macular degeneration (example CPTs: 81404, 81408, 81479, 81599, 0205U). Multigene panel testing for inherited retinal dystrophies is considered medically necessary when the member has a phenotype consistent with rod–cone degeneration, cone–rod degeneration, chorioretinal degeneration, or macular dystrophy, and the panel includes, at a minimum, the RPE65 gene. Prior authorization is required for multigene panels to document the clinical features that meet these criteria. Policy language has been updated to reflect these positions and the document title and coding references were revised in the V1.2025 update.

Providers should document the clinical rationale consistent with guideline-based expectations and submit prior authorization when requesting covered genetic testing. Tests submitted for indications not listed as medically necessary (for example, routine screening for AMD or panels without the required gene content) are at high risk for denial because they are not supported by the current evidence base.

Retinitis Pigmentosa has been removed from the policy section titled "Other Covered Eye Disorders" because it is now explicitly covered under the Inherited Retinal Dystrophies Multigene Panel Analysis criteria set. The updated criteria require panel testing when the member’s clinical phenotype is consistent with rod–cone degeneration (e.g., retinitis pigmentosa), and when the panel includes, at minimum, the RPE65 gene.

The policy does not support routine or unspecified genetic testing for eye disorders. Specifically, genetic testing for AMD and multigene panel testing for inherited retinal dystrophies outside the listed clinical phenotypes are considered not medically necessary because current evidence does not demonstrate clinical utility for these indications. Providers should limit testing requests to the conditions and clinical findings specified in the medical necessity criteria and include documentation to support the phenotype and test selection.

Policy language previously using the term "Investigational" has been updated across the document to read: "Current evidence does not support…" where applicable. This change clarifies that tests described by this wording lack sufficient evidence of clinical utility for coverage, for example genetic testing for macular degeneration and multigene panels outside defined indications.

Coding and Billing

Referenced CPT CodesCPT

81404	NGS multigene panel (as listed for macular degeneration and inherited retinal dystrophies)
81406	NGS multigene panel (listed for inherited retinal dystrophies in some tests)
81408	NGS multigene panel (listed)
81434	Inherited retinal dystrophies multigene panel analysis
81479	Unlisted molecular pathology procedure (used in some tests)
81599	Unlisted proprietary lab test (listed for macular degeneration)
0205U	Macular degeneration specific proprietary CPT (Vita Risk)
81400-81408	Range listed under Other Covered Eye Disorders

Referenced ICD-10 CodesICD-10

H35.30	Macular degeneration unspecified
H35.3110-H35.3194	Macular degeneration multiple specific codes
H35.3210-H35.3293	Macular degeneration other codes
Z13.5	Encounter for screening for eye and ear disorders
H35.50-H35.54	Inherited retinal dystrophies codes

Removed from policy reference tableCPTNot Covered

81406

Molecular pathology procedure (specific code removed from Fulgent Genetics macular degeneration test)

Biallelic pathogenic variants for RPE65 — requirement for diagnosis/therapy eligibility

Requirement for diagnosisPathogenic or likely pathogenic variants must be present in both copies of RPE65 (biallelic) to establish a diagnosis of RPE65-mediated inherited retinal dystrophy; additional documentation of trans configuration is required when sequencing cannot resolve phase.

Testing methods and limitationsNext-generation sequencing and Sanger sequencing typically cannot resolve phase (trans vs. cis) when two RPE65 variants are detected; further testing or documentation is required to confirm trans configuration.

Clinical context for testingGenetic testing is required to detect pathogenic RPE65 variants in individuals with documented vision loss consistent with inherited retinal dystrophy.

Counseling requirementPatients should receive counseling from a physician with expertise in inherited disease or a genetic counselor prior to testing and be provided a written copy of results.

Provider Actions & Requirements

Prior Authorization

Obtain prior authorization for multigene panels

Prior authorization is required for multigene panel testing for inherited retinal dystrophies and for genetic testing for other covered eye disorders to document that the member has clinical features consistent with the policy’s listed phenotypes and that the panel includes RPE65 when relevant.

Applies to panel CPT examples: 81404, 81406, 81408, 81434, 81479.
Authorization should include documentation of the specific clinical phenotype (rod-cone, cone-rod, chorioretinal degeneration, or macular dystrophy).

Billing Rule

Remove CPT 81406 from prior auth/billing for Fulgent MD test

Update prior authorization and billing submissions to reflect that CPT 81406 has been removed from the Fulgent Genetics macular degeneration test listing in the policy reference table.

Background

Inherited eye diseases are genetically heterogeneous: approximately ~500 genes have been implicated across syndromic and non-syndromic retinal disorders. Many retinal dystrophies present with overlapping phenotypes (rod–cone vs. cone–rod degeneration, chorioretinal degeneration, macular dystrophy), which is why multigene panels that include key genes such as RPE65 are required when testing is medically necessary. By contrast, age-related macular degeneration (AMD) is a multifactorial disorder and the policy concludes that current evidence does not support routine genetic testing for AMD given limited clinical utility in asymptomatic individuals or for guiding management. These distinctions underpin the policy’s differing coverage positions and the requirement for phenotype-driven testing and documentation.

Definitions

Age-related Macular Degeneration (AMD) definition and key fact

DefinitionAge-related Macular Degeneration (AMD) is the leading cause of blindness and irreversible vision loss among older adults (greater than age 65 years).

Genetic testing stanceCurrent evidence does not support genetic testing for macular degeneration for routine clinical use; such testing is not supported by the policy. (Examples of CPTs: 81404, 81408, 81479, 81599, 0205U)

Purpose of testingGenetic testing of asymptomatic individuals aims to identify single nucleotide variants for primary prevention or earlier detection, but clinical utility is limited for AMD management.

Retinal dystrophies (RDs) — definition and clinical/genetic heterogeneity

DefinitionRetinal dystrophies (RDs) are degenerative diseases of the retina with marked clinical and genetic heterogeneity; vision impairment ranges from poor peripheral or night vision to complete blindness, typically progressing with age.

Policy Summary

PayerAmbetter Nevada

PolicyConcert Genetic Testing: Ophthalmology

Policy CodePolicy N/A

Change TypeCriteria update and coding revision

Effective DateN/A

Last ReviewNov 20, 2025

Next Review DateN/A

Key ActionObtain prior authorization for multigene panel testing for inherited retinal dystrophies and ensure the panel includes RPE65 when clinically indicated.

SourceLink

On This Page

Do not rely on 81406 for the Fulgent Genetics macular degeneration test listing after the 11/24 revision.
Ensure submitted CPT codes match the policy reference table when requesting authorization.

Step Therapy

Document genetic confirmation for gene therapy eligibility (RPE65)

Obtain and document genetic testing necessary to confirm biallelic RPE65 pathogenic or likely pathogenic variants when assessing eligibility for voretigene neparvovec (Luxturna); if two RPE65 variants are detected, provide additional documentation establishing trans configuration as required to confirm biallelic status.

Luxturna is indicated for confirmed biallelic RPE65 mutation–associated retinal dystrophy (FDA approval).
Phase/phase-confirmation (trans vs. cis) documentation is required when NGS/Sanger cannot resolve variant phase.

Note

Document phenotype, RPE65 inclusion, and variant-phase evidence

Ensure all genetic testing requests include the clinical features and guideline justification required by the policy; when applicable, explicitly state that RPE65 is included on the panel and provide evidence supporting biallelic pathogenic variants for RPE65.

Clinical features should match one of the listed phenotypes (rod-cone, cone-rod, chorioretinal degeneration, macular dystrophy).
State in documentation that the panel includes RPE65 and supply phase or segregation data if two RPE65 variants are found.

Documentation Required

Provide genetic counseling, written report, and use CLIA labs

When ordering genetic testing, counsel the patient and document that counseling was provided by a physician with expertise in inherited disease or a certified genetic counselor, provide the patient with a written copy of the genetic test report, and use CLIA-approved laboratories for testing.

Treating ophthalmologist should discuss testing or refer to a specialist/counselor and ensure the patient receives a written copy of results.
Use Clinical Laboratory Improvement Amendments (CLIA)-approved laboratories and prefer reports that estimate pathogenicity based on literature and variant databases.

Documentation Required

Cite AAO/ASRS and GeneReviews/OMIM in documentation

Support prior authorization and clinical notes with guideline-based references: document clinical rationale consistent with AAO/ASRS recommendations and, where appropriate, reference GeneReviews or OMIM entries for the specific disorder.

AAO guidance recommends next-generation sequencing retinal dystrophy panels as a first step and genetic testing to determine eligibility for voretigene neparvovec.
Reference GeneReviews/OMIM or other scholarly sources to outline relevant clinical features used to justify testing.

Denial Risk

Avoid testing for AMD and unsupported indications (denial risk)

Do not submit genetic testing claims for age-related macular degeneration or for multigene panel testing outside the policy’s listed clinical indications; such requests risk denial because current evidence does not support genetic testing for AMD and panels are limited to specified phenotypes.

Policy states: 'Current evidence does not support genetic testing for macular degeneration.'
Multigene panels are medically necessary only for listed phenotypes and include RPE65; other indications are not supported.

Denial Risk

Retired glaucoma criteria may cause denial if billed as formerly covered

Be aware that the glaucoma criteria set was retired due to low order and claim volume; tests previously submitted under that retired glaucoma criteria may be denied — contact the plan or use remaining criteria for justification.

Retired glaucoma criteria: 'retired criteria set based on rarity of testing (low order volume and low claim volume)'.
Providers should refer to remaining criteria or contact the plan for guidance.

Clinical variabilitySeverity and presentation vary widely across disorders (rod-cone, cone-rod, chorioretinal degeneration, macular dystrophy), requiring phenotype-driven testing.

Genetic heterogeneityRDs are genetically heterogeneous, with many different genes implicated, necessitating multigene panel approaches when testing is indicated.

RPE65 — gene description and role; therapy relevance

Gene functionRPE65 encodes a retinal isomerase expressed in the retinal pigment epithelium responsible for regeneration of 11-cis-retinol in the visual cycle.

Disease mechanismPathogenic variants in both copies of RPE65 cause biallelic RPE65-mediated inherited retinal dystrophy, leading to vision loss.

Therapy relevanceAccurate identification of biallelic RPE65 pathogenic variants is necessary to determine eligibility for FDA-approved gene therapy (voretigene neparvovec/Luxturna).

Gene therapy — general definition and modality

DefinitionGene therapy is a treatment that changes gene expression to treat disease by replacing, inactivating, or introducing genes, often using a vector such as a virus.

Modality noteGenes may be introduced into human cells through a vector, usually a virus; gene therapy can restore or modify gene function to alter disease course.

Clinical implicationFor some inherited retinal dystrophies (e.g., biallelic RPE65), gene therapy is an available treatment option contingent on confirmed genetic diagnosis.

Gene therapy — GeneReviews / OMIM — referenced genetic resources

GeneReviewsGeneReviews is cited as a referenced genetic information resource for test interpretation and condition definitions (Adam MP et al.).

OMIMOnline Mendelian Inheritance in Man (OMIM) is referenced as an authoritative resource for genetic disease information used by the policy.

Use in documentationProviders should reference GeneReviews/OMIM and professional guidelines when documenting clinical rationale and interpreting genetic test results.