ArticleMolecular genetics and metabolism reports2025
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon.
Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
In October 2018, the Oregon newborn screening program began screening for four lysosomal storage disorders (LSDs) Pompe, Mucopolysaccharidosis Type I (MPSI), Gaucher, and Fabry. The laboratory used two different methodologies, digital microfluidics and tandem mass spectrometry, to measure the four LSD enzyme activities. Accuracy and precision were improved and lower false positive rates were observed with use of the Revvity NeoLSD assay on the mass spectrometry platform, as compared to the Baebies digital microfluidics method. All newborn specimens with screen positive results were reflexed to a second-tier molecular assay to identify variants in the target gene. Over the first five years of screening, 139 cases were referred for confirmatory testing and clinical evaluation due to presence of pathogenic/likely pathogenic variant(
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