Eye Disease Genetic Panel
Hereditary eye condition screening
What is this test?
Our Eye Disease Genetic Panel analyzes over 300 genes associated with inherited retinal diseases (IRDs) and other genetic eye conditions. With gene therapy now available for certain IRDs, an accurate molecular diagnosis is more important than ever — it can determine eligibility for sight-saving treatments and guide surveillance strategies.
Key Benefits
Voretigene neparvovec (Luxturna) is FDA-approved for RPE65-associated IRD. Identifying the causative gene can determine if you qualify for this or other emerging therapies.
Dozens of gene therapy and antisense oligonucleotide trials are underway for specific IRD genes. A molecular diagnosis is required for enrollment.
Different gene mutations cause different rates of vision loss. Knowing your specific mutation helps predict the course of your condition.
IRDs follow various inheritance patterns. A genetic diagnosis enables accurate recurrence risk counseling for family members.
How It Works
Your retina specialist or ophthalmologist orders the test based on clinical examination and imaging findings.
A simple blood draw or saliva sample is collected — no eye tissue is needed.
300+ eye disease genes are sequenced including deep intronic regions known to harbor pathogenic variants in key IRD genes.
Variants are interpreted by molecular geneticists with IRD expertise, correlating genotype with the specific retinal phenotype.
The report highlights gene therapy eligibility, clinical trial options, and long-term visual prognosis based on the molecular diagnosis.
Who should consider this test?
- Individuals with progressive vision loss or night blindness
- Children with congenital cataracts, glaucoma, or nystagmus
- Patients diagnosed with retinitis pigmentosa, Stargardt disease, or cone-rod dystrophy
- Families with a history of inherited blindness or low vision
- Those considering eligibility for gene therapy or clinical trials
Conditions Screened
Accuracy & Clinical Evidence
>99% analytical sensitivity for SNVs and small indels in targeted regions
The American Academy of Ophthalmology recommends genetic testing for all patients with suspected inherited retinal disease. Diagnostic yield for comprehensive IRD panels exceeds 60% in well-phenotyped patients. Voretigene neparvovec (Luxturna) demonstrated significant visual improvement in RPE65 patients in the Phase III trial.
Scientific Detail
Sequencing covers all coding exons, ±20 bp flanking intronic regions, and select deep intronic positions with known pathogenic variants (e.g., CEP290 c.2991+1655A>G). ABCA4 analysis includes enhanced detection of complex alleles. Variant classification follows ACMG/AMP guidelines with IRD-specific criteria from the ACGS.
For Healthcare Providers
This panel sequences 300+ IRD and ophthalmic genes including deep intronic variants in ABCA4, CEP290, and USH2A. Mean coverage exceeds 100x. CNV analysis is included. For patients with a clinical diagnosis but negative panel result, reflex to WGS with IRD-focused analysis is available.
Important Limitations
- Some IRDs are caused by deep intronic or structural variants that may not be fully captured, although key known deep intronic variants are included.
- RPGR ORF15 is a difficult-to-sequence region; coverage may be incomplete, and Sanger sequencing confirmation is performed when needed.
- Variants of uncertain significance may be reported, particularly in large genes like USH2A and ABCA4.
- Mitochondrial DNA-associated optic neuropathies (e.g., Leber hereditary optic neuropathy) require a separate mitochondrial genome test.
- This panel does not assess complex genetic traits contributing to age-related macular degeneration.
Frequently Asked Questions
Test Details
Interested in this test?
Speak with our team to learn more about ordering this test or to get a consultation.
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