CurrentCentenePolicy Concert Genetic Testing: Eye Disorders V1.2025

Concert Genetic Testing: Eye Disorders V1.2025

Defines medical necessity criteria for genetic testing for eye disorders (macular degeneration, inherited retinal dystrophies multigene panels, and other rare genetic eye disorders) for health plans affiliated with Centene. Includes covered, investigational, and conditional criteria and coding examples.

Policy Summary

PayerCentene

PolicyConcert Genetic Testing: Eye Disorders V1.2025

Policy CodePolicy Concert Genetic Testing: Eye Disorders V1.2025

Change TypeRevisions and administrative updates (V1.2025)

Effective DateNov 1, 2025

Next Review Date

Key ActionDocument clinical features consistent with specified presentations and ensure the multigene panel includes RPE65 when requesting inherited retinal dystrophy testing; obtain required prior authorization and order testing from CLIA-certified labs.

POLICY UPDATE CHANGES

Macular Degeneration: Removed CPT code 81406 from Fulgent Genetics test in Policy Reference Table and within criteria; Updated access date for online reference.

Inherited Retinal Dystrophies Multigene Panel Analysis: Updated access date for online reference; criteria clarified to require inclusion of RPE65 gene.

Other Covered Eye Disorders: Removed 'Retinitis Pigmentosa' from the miscellaneous disorders list (covered under Inherited Retinal Dystrophies Multigene Panel Analysis).

Updated background, references, and formatting (GeneReviews copyright dates, removed unnecessary headers).

1Investigational: Macular Degeneration

1Covered: Inherited Retinal Dystrophies Panel (when criteria met)

Coverage Summary

This policy, "Concert Genetic Testing: Eye Disorders V1.2025" (Policy Number: Concert Genetic Testing: Eye Disorders V1.2025), effective 2025-11-01 and last revised 11/24, defines medical necessity criteria for genetic testing for eye disorders for health plans affiliated with Centene. Genetic testing for age-related macular degeneration (AMD) is considered investigational. Genetic testing for inherited retinal dystrophies via a multigene panel is covered (medically necessary) when specified clinical criteria are met (e.g., clinical presentations such as rod-cone degeneration, cone-rod degeneration, chorioretinal degeneration, or macular dystrophy and when the panel includes RPE65); testing outside those indications is considered investigational. Other rare genetic eye disorders may be covered to establish or confirm diagnosis when clinical features are consistent with the listed conditions.

The policy includes coding examples and guidance, notes changes in the 11/24 revision (including removal of certain CPT codes from reference listings), and directs providers to follow Concert Platform registration and prior-authorization processes.

Medical Necessity Criteria

Macular Degeneration

Genetic testing for macular degeneration is considered:

Genetic testing for macular degeneration (CPT: 81404, 81408, 81479, 81599, 0205U) is considered investigational.

Inherited Retinal Dystrophies Multigene Panel Analysis - Investigational

Genetic testing for inherited retinal dystrophies via a multigene panel is considered investigational when the following apply:

Indication is other than the clinical presentations listed in the medically necessary criteria above.

Other Covered Eye Disorders

Genetic testing to establish or confirm diagnosis is considered medically necessary when the member demonstrates clinical features consistent with the disorder (list is not comprehensive):

Duane Syndrome

Familial Exudative Vitreoretinopathy

Aniridia

X-linked Congenital Retinoschisis

Presenile Cataracts

For all other eye disorders not specifically discussed, evaluation will follow criteria in Genetic Testing: General Approach to Genetic and Molecular Testing.

Coding Examples

Macular Degeneration - example CPT codes (investigational)CPTNot Covered

81479	Unlisted molecular pathology procedure
81599	Unlisted multianalyte assay with algorithmic analysis
0205U	Macular degeneration specific U-code (example)
81404	Targeted genomic sequence analysis panel
81408	Exome sequencing, 2-50 genes (example)

Inherited Retinal Dystrophies Multigene Panel - covered when criteria metCPTCovered

81434	Panel; mitochondrial and nuclear genes (Inherited retinal dystrophies example)
81404	Targeted genomic sequence analysis panel
81408	Exome sequencing, 2-50 genes (example)
81479	Unlisted molecular pathology procedure (example)

Other Covered Eye Disorders - example CPT rangeCPTCovered

81400-81408

CPT range for molecular pathology procedures (examples; not exhaustive)

Example ICD-10 codes referenced for macular degenerationICD-10

H35.50-H35.54	Inherited retinal dystrophies (used as example codes for inherited retinal dystrophies multigene panels)
H35.30	Macular degeneration, unspecified (example)
H35.3110-H35.3194	Macular degeneration variants (example range)
H35.3210-H35.3293	Macular degeneration variants (example range)
H35.50	Hereditary retinal dystrophy (example)

Provider Actions & Requirements

Documentation Required

Clinical findings required

Document clinical features consistent with one of the specified presentations (rod-cone degeneration, cone-rod degeneration, chorioretinal degeneration, or macular dystrophy) when requesting an inherited retinal dystrophy multigene panel; ensure the panel includes RPE65.

81404
81406
81408
81434
81479

Prior Authorization

Prior authorization expectation

Obtain any required prior authorization per the member's health plan processes before ordering testing; evaluate tests for medical necessity and use the Concert Platform list of registered tests when determining appropriateness.

Background, Evidence & Definitions

Many inherited eye diseases are linked to hundreds of genes; AMD is multifactorial with both genetic and environmental contributors and is the leading cause of irreversible vision loss in adults over 65. The policy states the clinical utility of genetic testing for AMD is limited and that no studies have shown improved health outcomes from AMD genetic testing compared with clinical evaluation. Major society positions cited note testing for AMD should be confined to research and that routine genotyping is not currently recommended to guide treatment or supplement recommendations.

For inherited retinal dystrophies, genetic testing is supported when results can affect management or determine eligibility for therapies (for example, voretigene neparvovec/Luxturna for confirmed biallelic RPE65 mutation-associated retinal dystrophy). The AAO recommends next-generation sequencing retinal dystrophy panels as an efficient first step and that panels include genes for syndromic forms. The policy also recommends ordering tests from CLIA-certified laboratories, avoiding direct-to-consumer testing for clinical decision-making, and providing genetic counseling by a physician experienced in inherited disease or a certified genetic counselor.

Source	Key Point
FDA approval (Luxturna)	Voretigene neparvovec (Luxturna) approved Dec 2017 for confirmed biallelic RPE65 mutation-associated retinal dystrophy.
AAO guidance	AAO (2022) recommends next-generation sequencing retinal dystrophy panels as an efficient first step and that panels should include genes for syndromic forms and RPE65 to determine eligibility for voretigene neparvovec.
ASRS position	ASRS (2017) correspondence states limited utility of AMD genetic testing, complex interpretation, recommends CLIA-certified labs and discourages direct-to-consumer testing; genetic testing does not currently guide treatment decisions for AMD.

Age-related Macular Degeneration (AMD): Leading cause of blindness and irreversible vision loss among older adults (>65); multifactorial with genetic and environmental contributors; genetic testing utility is limited.

Retinal dystrophies (RDs): Degenerative retinal diseases with marked clinical and genetic heterogeneity; vision impairment ranges from poor peripheral/night vision to complete blindness and often progresses with age.

RPE65: Retinal pigment epithelium-specific protein 65-kD gene; pathogenic biallelic variants cause inherited retinal dystrophy that may be amenable to gene therapy (e.g., voretigene neparvovec).

Revision History

11/24revisionLatest

Macular Degeneration: Removed CPT code 81406 from Fulgent Genetics test in Policy Reference Table and within criteria; Updated access date for online reference. (Revision log dated 11/24; reflected in Policy Reference Table and criteria.)

11/24revisionLatest

Inherited Retinal Dystrophies Multigene Panel Analysis: Updated access date for online reference; criteria clarified to require inclusion of RPE65 gene.

11/24