Diagnostic yield of next generation sequencing gene panel assays for early-onset glaucoma in an ethnically diverse population.

ABSTRACT:

Background

Early-onset glaucoma is a potentially sight-threatening condition with high heritability. Next generation sequencing is a cost-effective alternative to individual gene screening that could expedite its diagnosis. However, the diagnostic yield of multigene panel assays for early-onset glaucoma varies according to the tested population. The purpose of this study was to ascertain the diagnostic yield of next generation sequencing panels in our cohort and to identify population characteristics that increase such yield.

Methods

We conducted a retrospective review of the medical records of consecutive patients from November 2016 to August 2021 who were evaluated at our clinics for early-onset glaucoma and had undergone next generation sequencing panels for molecular dia

SUBMITTER: Villalba MF 

PROVIDER: S-EPMC9772253 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature