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Inherited Retinal Disease

Single molecule Molecular Inversion Probes may be more cost-effective in some IRDs

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Sequence analysis using single molecule Molecular Inversion Probes (smMIPs) may be effective and less costly than whole exome sequencing (WES) in patients with retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) while having similar diagnostic yield, according to a study.

In this study, the panel was used to screen 1192 probands from a cohort of patients with predominantly RP and LCA. The diagnostic yield was 56% which was on par with results from analyses using WES.

“The effectiveness and the reduced costs compared to WES renders the RP-LCA smMIPs panel a competitive approach to provide IRD patients with a genetic diagnosis, especially in countries with restricted access to genetic testing,” the authors concluded.

Reference
Panneman DM, Hitti-Malin RJ, Holtes LK, et al. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. Front Cell Dev Biol. 2023;11:1112270. doi: 10.3389/fcell.2023.1112270. PMID: 36819107; PMCID: PMC9936074.

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