CoGenesis® Ophthalmological
NGS virtual panel covering 773 genes across 8 disease panels (Ophthalmological disorders)
CoGenesis® Ophthalmological is a next-generation sequencing virtual panel of 773 genes covering inherited retinal dystrophies, congenital cataracts, primary glaucoma, optic atrophy, anterior segment dysgenesis, anophthalmia/microphthalmia, and corneal dystrophies. It captures the extensive genetic heterogeneity of hereditary eye disease, where clinical features overlap across more than 300 known disease genes. A molecular diagnosis confirms the clinical impression, enables prognostic counselling, and identifies patients who may be eligible for gene-specific therapies such as voretigene neparvovec (RPE65) or for ongoing clinical trials.
- Establishing a molecular diagnosis in patients with clinical features of inherited retinal dystrophy or other hereditary eye disease.
- Resolving phenotypic overlap between syndromic and non-syndromic forms (e.g., Usher syndrome, Bardet-Biedl syndrome).
- Determining eligibility for approved gene-specific therapy and active clinical trials.
- Informing reproductive counselling and cascade testing for relatives.
- Diagnosing acquired eye disease caused by infection, inflammation, trauma, or environmental exposure.
- Predicting the exact age of onset, rate of progression, or final visual acuity.
- Replacing structural ophthalmic assessment such as OCT, fundus imaging, or electroretinography.
- Serving as a stand-alone diagnostic tool without clinical correlation.
8 sub-panels included:
| Step / Test | Accuracy | Notes |
|---|---|---|
| Variant calling – SNP | >99.9% | |
| Variant calling – Indel | >99% |
4mL Peripheral blood (EDTA), 2mL saliva, or buccal swab
Preferred sample type:
- 4mL Blood (EDTA tube),
- Codex-provided buccal swabs (4 swabs)
- Codex-provided saliva collection kit (2mL)
Saliva or buccal swab sample collection: Follow the enclosed instructions; do not eat, drink, or smoke for 30 minutes before collection.
- Insufficient DNA quantity or poor DNA quality
- Improperly labeled or contaminated samples
- Degraded specimens due to incorrect storage or transport
- Non-human samples or inappropriate specimen types
Samples must be collected and submitted by a licensed healthcare professional.
- Keep Blood samples at 4–8°C after collection; avoid freezing, deliver within 48 hours of collection.
- Saliva or buccal swabs are stability in room temperature for up to 7 days. Address: Unit 220, 2/F, Building 16W, HKSTP, Pak Shek Kok, NT, Hong Kong. Tel: +852 3008 2560
- Results may identify pathogenic, likely pathogenic, or variants of uncertain significance (VUS).
- Positive findings can inform risk‑reducing strategies and treatment options.
- Genetic counseling is recommended to help families understand implications.
Inherited retinal diseases affect roughly 1 in 2,000 to 1 in 4,000 individuals and are a leading cause of blindness in the working-age population. Disease-causing variants have been identified in more than 300 retinal genes, yet approximately 70% of diagnoses involve around 20 high-frequency genes. NGS panel testing achieves a molecular diagnosis in roughly 60% of patients with inherited retinal dystrophy, rising to over 90% in children under six. Beyond retinal disease, genetic testing identifies causal variants in approximately 20% of early-onset glaucoma and 50% of optic atrophy cases. Molecular diagnosis is increasingly clinically actionable: approved gene therapies and multiple active trials require gene- or variant-level confirmation for enrolment.
Hong Kong-based molecular diagnostics laboratory specialising in clinical genomics, precision oncology, and rare disease diagnosis. Accredited to ISO 27001 and GenQA standards.
© 2026 Codex Genetics Limited. All rights reserved.
