1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
PREVENTION · PRV06
Eye Disease Prevention
Focused analysis of genes associated with selected inherited retinal disorders and glaucoma where early ophthalmic surveillance may matter.
Targeted next-generation sequencing of the complete coding sequence and relevant splice regions of the selected genes; this is not a hotspot-only screen.
Clinically classified findings, an explanation of the inherited risk, and recommendations for medical follow-up or preventive discussion.
Confirmed after case and sample review.
CLINICAL VALUE
Where this test is strongest
✓Focused 5-gene scope
✓Retinal-disease and glaucoma genes
✓Can support earlier specialist surveillance
✓Full-gene analysis
LIMITATIONS
What must remain visible
!A predisposition is not a diagnosis and does not predict if or when disease will occur.
!A negative result does not remove all inherited or non-genetic risk; selection and interpretation require medical context.
!This is a focused preventive module, not a comprehensive inherited-eye-disease diagnostic panel.
GENE & ANALYTICAL SCOPE
5 published genes
Focused five-gene preventive eye-disease scope.
Eye diseasesPRV06 · 5 published genes+
Complete panel scope (5 genes).
ABCA4CRB1GUCY2DMYOCRPE65
BEFORE ORDERING
Confirm the current laboratory specification.
The official case review and quotation confirm eligibility, accepted material, validated coverage and variant classes, consent, turnaround, price, and report pathway.