The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives

Dried blood spot (DBS) methods are currently available for identification of a range of lysosomal storage disorders (LSDs). These disorders are generally characterized by a deficiency of activity of a lysosomal enzyme and by a broad spectrum of phenotypes. Diagnosis of LSD patients is often delayed,...

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Published in:Molecular genetics and metabolism 2011-09, Vol.104 (1-2), p.144-148
Main Authors: Reuser, Arnold J., Verheijen, Frans W., Bali, Deeksha, van Diggelen, Otto P., Germain, Dominique P., Hwu, Wuh-Liang, Lukacs, Zoltan, Mühl, Adolf, Olivova, Petra, Piraud, Monique, Wuyts, Birgit, Zhang, Kate, Keutzer, Joan
Format: Article
Language:English
Subjects:
Dried blood spot analysis
Dried Blood Spot Testing - methods
Dried Blood Spot Testing - standards
Dried Blood Spot Testing - trends
Humans
Lysosomal storage disease
Lysosomal Storage Diseases - blood
Lysosomal Storage Diseases - diagnosis
Newborn screening
Quality Control
Reference Standards
Research Report
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Summary:Dried blood spot (DBS) methods are currently available for identification of a range of lysosomal storage disorders (LSDs). These disorders are generally characterized by a deficiency of activity of a lysosomal enzyme and by a broad spectrum of phenotypes. Diagnosis of LSD patients is often delayed, which is of particular concern as therapeutic outcomes (e.g. enzyme replacement therapy) are generally more favorable in early disease stages. Experts in the field of LSDs diagnostics and screening programs convened and reviewed experiences with the use of DBS methods, and discuss the diagnostic challenges, possible applications and quality programs in this paper. Given the easy sampling and shipping and stability of samples, DBS has evident advantages over other laboratory methods and can be particularly helpful in the early identification of affected LSD patients through neonatal screening, high-risk population screening or family screening.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2011.07.014