Diagnostic Testing

The Genetic Eye Disorder, or GEDi, panel uses targeted enrichment coupled with next-generation sequencing (NGS) to simultaneously analyze the coding sequence and selected intronic regions of 267 genes associated with inherited retinal disease (IRD), early-onset glaucoma and optic atrophy, as well as the mitochondrial genome, for likely-pathogenic mutations. Simultaneously deep sequencing the coding and intronic regions of these 267 genes, as well as the mitochondrial genome, allows for a comprehensive and unbiased genetic analysis of patient samples. This combination of sequencing is especially relevant considering the high degree of genetic heterogeneity associated with IRD. Providing clinicians and patients with accurate GEDi genetic diagnoses can improve genetic counseling and facilitate focal ocular treatments and therapies, including corrective gene therapy clinical trials.

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Facts

Represented at Harvard this year

International population over time

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International population over this year