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Article

Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications

1
Institute for Biomedical Research and Innovation, National Research Council, 95126 Catania, Italy
2
Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, AOU “Policlinico”, PO “G. Rodolico”, 95123 Catania, Italy
3
Department of Educational Sciences, University of Catania, 95124 Catania, Italy
*
Author to whom correspondence should be addressed.
Academic Editor: Grzegorz Wegrzyn
Int. J. Mol. Sci. 2021, 22(18), 10064; https://doi.org/10.3390/ijms221810064
Received: 29 June 2021 / Revised: 2 September 2021 / Accepted: 14 September 2021 / Published: 17 September 2021
Lysosomal storage diseases (LSDs) are a heterogeneous group of approximately 70 monogenic metabolic disorders whose diagnosis represents an arduous challenge for clinicians due to their variability in phenotype penetrance, clinical manifestations, and high allelic heterogeneity. In recent years, the approval of disease-specific therapies and the rapid emergence of novel rapid diagnostic methods has opened, for a set of selected LSDs, the possibility for inclusion in extensive national newborn screening (NBS) programs. Herein, we evaluated the clinical utility and diagnostic validity of a targeted next-generation sequencing (tNGS) panel (called NBS_LSDs), designed ad hoc to scan the coding regions of six genes (GBA, GAA, SMPD1, IDUA1, GLA, GALC) relevant for a group of LSDs candidate for inclusion in national NBS programs (MPSI, Pompe, Fabry, Krabbe, Niemann Pick A-B and Gaucher diseases). A standard group of 15 samples with previously known genetic mutations was used to test and validate the entire flowchart. Analytical accuracy, sensitivity, and specificity, as well as turnaround time and costs, were assessed. Results showed that the Ion AmpliSeq and Ion Chef System-based high-throughput NBS_LSDs tNGS panel is a fast, accurate, and cost-effective process. The introduction of this technology into routine NBS procedures as a second-tier test along with primary biochemical assays will allow facilitating the identification and management of selected LSDs and reducing diagnostic delay. View Full-Text
Keywords: lysosomal storage disease (LSDs); newborn screening (NBS); targeted next-generation sequencing (tNGS) lysosomal storage disease (LSDs); newborn screening (NBS); targeted next-generation sequencing (tNGS)
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MDPI and ACS Style

La Cognata, V.; Guarnaccia, M.; Morello, G.; Ruggieri, M.; Polizzi, A.; Cavallaro, S. Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications. Int. J. Mol. Sci. 2021, 22, 10064. https://doi.org/10.3390/ijms221810064

AMA Style

La Cognata V, Guarnaccia M, Morello G, Ruggieri M, Polizzi A, Cavallaro S. Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications. International Journal of Molecular Sciences. 2021; 22(18):10064. https://doi.org/10.3390/ijms221810064

Chicago/Turabian Style

La Cognata, Valentina, Maria Guarnaccia, Giovanna Morello, Martino Ruggieri, Agata Polizzi, and Sebastiano Cavallaro. 2021. "Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications" International Journal of Molecular Sciences 22, no. 18: 10064. https://doi.org/10.3390/ijms221810064

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