Xinying Hong1, Martin Sadilek1, Michael H Gelb2,3. 1. Department of Chemistry, University of Washington, Seattle, WA, USA. 2. Department of Chemistry, University of Washington, Seattle, WA, USA. gelb@uw.edu. 3. Deparment of Biochemistry, University of Washington, Seattle, WA, USA. gelb@uw.edu.
Abstract
PURPOSE: To develop a multiplexed assay for the newborn screening of lysosomal storage disorders and additional inborn errors in a flexible, comprehensive, and affordable manner to keep up with the expansion of the newborn screening panel. METHODS: Ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) was chosen as the detection platform for its superiority compared to traditional flow-injection MS/MS. RESULTS: A high-throughput, 18-plex UPLC-MS/MS assay was developed for screening purposes with a sample turnaround time of 2.7 minutes. The assay was consolidated such that only four dried blood spot punches were required, and it displayed good precision and reproducibility. CONCLUSION: We report a highly multiplexed UPLC-MS/MS assay that is appropriate for the newborn screening of 15 lysosomal storage diseases and 3 additional inborn errors. It can be further expanded to include additional conditions for which presymptomatic diagnosis may facilitate optimum treatment outcome.
PURPOSE: To develop a multiplexed assay for the newborn screening of lysosomal storage disorders and additional inborn errors in a flexible, comprehensive, and affordable manner to keep up with the expansion of the newborn screening panel. METHODS: Ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) was chosen as the detection platform for its superiority compared to traditional flow-injection MS/MS. RESULTS: A high-throughput, 18-plex UPLC-MS/MS assay was developed for screening purposes with a sample turnaround time of 2.7 minutes. The assay was consolidated such that only four dried blood spot punches were required, and it displayed good precision and reproducibility. CONCLUSION: We report a highly multiplexed UPLC-MS/MS assay that is appropriate for the newborn screening of 15 lysosomal storage diseases and 3 additional inborn errors. It can be further expanded to include additional conditions for which presymptomatic diagnosis may facilitate optimum treatment outcome.