Clinical implementation of gene panel testing for lysosomal storage diseases.
Alexander GheldofSara SenecaKatrien StouffsWilly LissensAnna JansenHilde LaeremansPatrick VerlooAn-Sofie SchoonjansMarije MeuwissenDiana BarcaGeert MartensLinda De MeirleirPublished in: Molecular genetics & genomic medicine (2018)
We show that the implementation of a gene panel for LSD diagnostics results in an increased yield in comparison to classical biochemical testing. As the panel is able to cover a wider range of diseases, we propose to implement this methodology as a first-tier test in cases of an aspecific LSD presentation, while enzymatic testing remains the first choice in patients with a more distinctive clinical presentation. Positive panel results should however still be enzymatically confirmed whenever possible.