Liquid chromatography–Tandem mass spectrometry in newborn screening laboratories
dc.contributor.author | Gelb, M. | pt_BR |
dc.contributor.author | Giugliani, Roberto | pt_BR |
dc.contributor.author | Matern, Dietrich | pt_BR |
dc.date.accessioned | 2023-03-10T03:26:32Z | pt_BR |
dc.date.issued | 2022 | pt_BR |
dc.identifier.issn | 2409-515X | pt_BR |
dc.identifier.uri | http://hdl.handle.net/10183/255524 | pt_BR |
dc.description.abstract | Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, the most common is flowinjection analysis (FIA-) MS/MS, where the sample is introduced as a bolus injection into the mass spectrometer without the prior fractionation of analytes. Liquid chromatography combined with MS/MS (LC-MS/MS) has been employed for second-tier tests to reduce the false-positive rate associated with several nonspecific screening markers, beginning two decades ago. More recently, LC-MS/MS has been applied to primary screening for new conditions for which FIA-MS/MS or other methods, including genomic screening, are not yet adequate. In addition to providing a list of the currently used LC-MS/MS-based assays for NBS, the authors share their experience regarding the maintenance requirements of LC-MS/MS vs. FIA-MS/MS systems. The consensus is that the maintenance of LC-MS/MS and FIA-MS/MS instrumentation is similar, and LC-MS/MS has the advantage of allowing for a larger number of diseases to be screened for in a multiplex, cost-effective fashion with a high throughput and an adequate turnaround time. | en |
dc.format.mimetype | application/pdf | pt_BR |
dc.language.iso | eng | pt_BR |
dc.relation.ispartof | International journal of neonatal screening. Basel. Vol. 8, no. 4 (2022), 62, 15 p. | pt_BR |
dc.rights | Open Access | en |
dc.subject | Triagem neonatal | pt_BR |
dc.subject | Newborn screening | en |
dc.subject | Lliquid chromatography | en |
dc.subject | Espectrometria de massas em Tandem | pt_BR |
dc.subject | Cromatografia líquida | pt_BR |
dc.subject | Tandem mass spectrometry | en |
dc.subject | Dried blood spots | en |
dc.subject | Teste em amostras de sangue seco | pt_BR |
dc.subject | Erros inatos do metabolismo | pt_BR |
dc.subject | Inborn errors of metabolism | en |
dc.subject | Reflex testing | en |
dc.title | Liquid chromatography–Tandem mass spectrometry in newborn screening laboratories | pt_BR |
dc.type | Artigo de periódico | pt_BR |
dc.identifier.nrb | 001161039 | pt_BR |
dc.type.origin | Estrangeiro | pt_BR |
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