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Abstract We investigated the effectiveness of exome sequencing (ES) in diagnosing ethnically diverse patients with rare genetic disorders. A total of 18,994 patients referred to a single reference laboratory for ES between 2020 and 2022 were studied for the diagnostic rate and factors influencing the diagnostic rate. The overall diagnostic rate was 31.8%.
1 Introduction Leber congenital amaurosis (LCA) is the earliest onset and most severe form of inherited retinal dystrophies (IRD) (den Hollander et al. 2008). It is characterized by severe vision loss from birth, nystagmus, sluggish pupillary responses, and an extinguished electroretinogram (den Hollander et al. 2008). The prevalence of LCA is estimated from 1.20 to 2.37 per 100,000 (Han et al. 2023).
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