Date Added: 11/06/2015

Date Updated: 11/06/2015

Neonatal screening for lysosomal storage disorders (Update of Aug 2012 Brief)

Specialties: Paediatrics & neonatology

Technology Type: Diagnostics - Programmes

Stage of development: Investigational - phase III

Stage of EAA: Assessment Complete

Description, patients and keywords:
Neonatal screening programs have been in use for decades and are generally intended to differentiate asymptomatic newborns from those without a disease for disorders in which early detection and pre-symptomatic treatment are required to avoid serious clinical harm. A disorder must also have a high enough prevalence to justify inclusion in such programs.(4)
Multiplex tandem mass spectrometry (MS/MS) is the primary technology used for newborn LSD screening. An older fluorescence assay (4-MU) is used as a comparator to the MS/MS technique in new studies. Details for each technique are outlined in greater detail in the 2012 Brief.

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