A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.

ABSTRACT: Newborn screening for one or more lysosomal disorders has been implemented in several US states, Japan and Taiwan by multiplexed enzyme assays using either tandem mass spectrometry or digital microfluidics. Another multiplex assay making use of immunocapture technology has also been proposed. To investigate the potential variability in performance of these analytical approaches, we implemented three high-throughput screening assays for the simultaneous screening for four lysosomal disorders: Fabry disease, Gaucher disease, mucopolysaccharidosis type I, and Pompe disease. These assays were tested in a prospective comparative effectiveness study using nearly 100,000 residual newborn dried blood spot specimens. In addition, 2nd tier enzyme assays and confirmatory molecular genetic testing wer

SUBMITTER: Sanders KA 

PROVIDER: S-EPMC7423013 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature