Panel-based genetic testing for inherited retinal disease screening 176 genes.

ABSTRACT:

Background

This case series reports the performance of a next-generation sequencing (NGS) panel of 176 retinal genes (NGS 176) in patients with inherited retinal disease (IRD).

Methods

Subjects are patients who underwent genetic testing between 1 August 2016 and 1 January 2018 at Moorfields Eye Hospital, London, UK. Panel-based genetic testing was performed unless a specific gene (e.g., RS1) or small group of genes (e.g., ABCA4, PRPH2) were suspected. If a novel variant was identified, a further comment on their predicted pathogenicity and evolutionary conservation was offered and segregation studies performed. The main outcome measure is the likelihood of obtaining a genetic diagnosis using NGS 176.

Results

488 patients were included. A molecular diagnosis was obtain

SUBMITTER: Sheck LHN 

PROVIDER: S-EPMC8683638 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature