Open AccessDevelopment and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders
Author(s) -
Víctor R. De Jesús,
X. Kate Zhang,
Joan Keutzer,
Olaf A. Bodamer,
Adolf Mühl,
Joseph J. Orsini,
Michele Caggana,
Robert F. Vogt,
W. Harry Han
Publication year - 2008
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2008.111864
Subject(s) - dried blood spot , newborn screening , chromatography , chemistry , dried blood , enzyme , enzyme assay , acid sphingomyelinase , enzyme replacement therapy , lysosomal storage disease , substrate (aquarium) , biochemistry , medicine , ceramide , biology , apoptosis , ecology , disease
Lysosomal storage disorders (LSDs) comprise more than 40 genetic diseases that result in the accumulation of products that would normally be degraded by lysosomal enzymes. A tandem mass spectrometry (MS/MS)-based method is available for newborn screening for 5 LSDs, and many laboratories are initiating pilot studies to evaluate the incorporation of this method into their screening panels. We developed and evaluated dried blood spot (DBS) QC materials for LSDs and used the MS/MS method to investigate their suitability for LSD QC monitoring.
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