Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.

Sonia Pajares-GarcíaJose Manuel González de Aledo-CastilloJosé Eduardo Flores-JiménezTatiana ColladoJudit PérezAbraham José Paredes-FuentesAna Argudo-RamírezRosa María López-GaleraBlanca PratsJudit García-Villoria

Published in: Clinical chemistry and laboratory medicine (2023)

We have described a 2TT panel of 31 metabolites in DBS samples based on an easy and rapid method without derivatisation. Its implementation allowed us to distinguish between different organic acidurias, some FAODs, and UCDs. This new strategy has increased the efficiency of our NBS programme by reducing FP and false negative results, second sample requests, and the time required for diagnosis.

Keyphrases

liquid chromatography tandem mass spectrometry
ms ms
simultaneous determination
study protocol
solid phase extraction
primary care
healthcare
deep brain stimulation
quality improvement
randomized controlled trial
loop mediated isothermal amplification
high resolution
water soluble