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.

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doi.org/10.1016/j.ymgme.2011.07.014, hdl.handle.net/1765/31015
Molecular Genetics and Metabolism
Erasmus MC: University Medical Center Rotterdam

Reuser, A., Verheijen, F., Bali, D., van Diggelen, O., Germain, D. P., Hwu, W. L., … Keutzer, J. (2011). The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectives. Molecular Genetics and Metabolism, 104(1-2), 144–148. doi:10.1016/j.ymgme.2011.07.014