Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.
Rosalie BaardmanH H LemminkV K YenamandraS Z Commandeur-JanM VielK A KooiGilles F H DiercksR MeijerMichel van GeelH SchefferRichard J SinkeB Sikkema-RaddatzMarieke C BollingPeter C van den AkkerPublished in: Journal of the European Academy of Dermatology and Venereology : JEADV (2024)
Our study quantifies the benefit of NGS-based methods and demonstrate they have had a major impact on EB diagnostics through an increased diagnostic yield and a dramatically decreased turnaround time (39 days). Although our diagnostic yield is high (95%), further improvement of genome diagnostics is urgently needed to provide a genetic diagnosis in all EB patients.