A high-throughput newborn next-generation screening panel targeted toward lysosomal storage disorders is fast, accurate, and cost-effective, according to an article from Italian researchers published in the International Journal of Molecular Sciences.

Introducing this technology into routine newborn screening programs along with primary biochemical assays could facilitate the identification and management of selected lysosomal storage disorders such as Pompe disease and reduce diagnostic delay, according to the authors of the study. This in turn could lead to better treatment outcomes.

The diagnosis of lysosomal storage disorders is very challenging due to the variability in phenotype, clinical manifestations, and high allelic heterogeneity. With the development of new disease-specific therapies, a number of lysosomal storage disorders have been added to newborn screening programs.

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In the present study, the team led by Sebastiano Cavallaro MD, PhD, evaluated the diagnostic validity and clinical utility of a targeted next-generation sequencing panel called NBS_LSDs. The panel was designed ad hoc to scan the coding regions of 6 genes that are relevant for 6 lysosomal storage disorder candidates including Pompe disease.

The researchers used a standard group of 15 samples with previously known genetic mutations to test and validate the panel. They then assessed the analytical accuracy, sensitivity, and specificity, plus the turnaround time and costs of the panel. 

The results showed that the panel is fast, accurate, and cost-effective.

“Targeted sequencing represents an appealing approach to improve routine diagnostic strategy,” the authors wrote, but added that preliminary analysis has to be performed to make sure that primer pairs amplification is efficient and leads to good amplicon coverage.

“Each laboratory interested in [lysosomal storage disorder] neonatal screening should invest in a diagnostic flowchart including both primary biochemical assays and the appropriate molecular genetic tools to address the clinical suspicion.”


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;17;22(18):10064. doi:10.3390/ijms221810064