Opthalmol Retina. 2022 Aug; 6 (8): 702-710. https://doi.org/10.1016/j.oret.2022.03.011
This article from the American Academy of Ophthalmology explores the different genetic testing platforms and evaluates the technologies available to aid in the diagnosis of inherited retinal degenerations (IRDs). This analysis aims to address the complexities ophthalmologists face when looking to order genetic testing for their IRD patients. Blueprint Genetics’ Inherited Retinal Disorders panel is one of the three IRD panel tests investigated. This review highlights the importance of choosing a panel validated to sequence difficult-to-sequence genes such as RPGR in addition to being able to capture non-coding variants in IRD genes to increase the chances of obtaining a diagnosis in affected individuals.
Read the article here.