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.
Note: due to a temporary technical limitation the newsletter subscription form below does not load in some browsers if cookies have not been allowed. If you do not see the form below, please allow functional cookies by clicking here to open the cookie preference centre, then allow functional cookies and reload this page. You can disallow cookies once you have signed up if you wish.
Please be advised that a specimen collection kit must be requested by a medical professional.
If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf.