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
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.