Inherited Retinal Diseases

Positivity Rates and Variant Reclassification: A Comparative Study of IRD Panels

While sponsored genetic testing panels improve access to molecular diagnosis for inherited retinal diseases (IRD), significant challenges remain, including varying positivity rates between providers, discrepancies in variant classification (especially for variants of unknown significance [VUS]), and the frequent issuance of amendments to test reports, according to a study. This retrospective...