Ocular Gene Panel

The Ocular Gene Panel is an advanced Next-Generation Sequencing (NGS) assay that analyzes a comprehensive set of genes associated with inherited ocular conditions. The test is designed to detect a range of genetic variants, including single nucleotide variants (SNVs), insertions/deletions (indels), and other clinically relevant mutations that contribute to hereditary eye diseases.

This panel covers genes linked to a wide spectrum of ocular disorders such as retinal dystrophies (including retinitis pigmentosa), macular dystrophies, Leber congenital amaurosis, optic neuropathies, congenital glaucoma, and corneal dystrophies. By identifying pathogenic or likely pathogenic variants, the test supports accurate diagnosis, disease classification, prognosis assessment, and personalized patient management.

The Ocular Gene Panel is typically performed using DNA extracted from a peripheral blood sample and provides valuable information for clinical decision-making, genetic counseling, and family risk assessment.