Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches

More than 60 lysosomal disorders have been described to date, and continued advancements in molecular (i.e., next generation sequencing) and biochemical (i.e., mass spectrometry) genetic testing will increase this number. In parallel, the same advancements have improved laboratory efficiency by allowing the simultaneous measurement of multiple enzyme activities and/or biomarker concentrations, as well as the rapid generation of genomic information with fewer tests. Here, we provide an overview of currently available biochemical and molecular genetic tests, and how they and their correlation to each other can support screening, diagnosis, and monitoring of patients with lysosomal disorders.