The first territory-wide expanded newborn screening for inborn errors of metabolism in Hong Kong: a pilot study

Lam, Ching‐Wan; Law, Choi Look; Mak, Chloe Miu; Siu, Wai-Kwan; Lee, Han-Chih Hencher; Ching, Chor Kwan; Chen, Sammy Pak-Lam; Chang, Sharon Tzu-Lun; Chow, Cathy Yuen-wa; Chan, Andrew

doi:10.1016/j.pathol.2016.12.280

Cited by 1 publication

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“…The analytical procedure begins with extraction of analytes from the dried blood spot with addition of internal standards, followed by injection into a liquid chromatography-tandem mass spectrometer, operating without a chromatography column in flow-injection mode [ 215 ]. Electrospray ionization together with tandem mass spectrometry operating in multiple reaction mode are typically used [ [216] , [217] , [218] ]. In the authors’ laboratory, dried blood spot analysis is done on specimens collected on Whatman 903 filter paper, using a commercial assay kit (NeoBase Non-derivatized MSMS, Perkin Elmer, MA) with which semi-quantitation of amino acids and acylcarnitines are performed with deuterated internal standards [ 219 ].…”

Section: Clinical Mass Spectrometrymentioning

confidence: 99%

Clinical Mass Spectrometry in the Bioinformatics Era: A Hitchhiker’s Guide

Chong

Leung

et al. 2018

Computational and Structural Biotechnology Journal

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Mass spectrometry (MS) is a sensitive, specific and versatile analytical technique in the clinical laboratory that has recently undergone rapid development. From initial use in metabolic profiling, it has matured into applications including clinical toxicology assays, target hormone and metabolite quantitation, and more recently, rapid microbial identification and antimicrobial resistance detection by matrix assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS). In this mini-review, we first succinctly outline the basics of clinical mass spectrometry. Examples of hard ionization (electron ionization) and soft ionization (electrospray ionization, MALDI) are presented to demonstrate their clinical applications. Next, a conceptual discourse on mass selection and determination is presented: quadrupole mass filter, time-of-flight mass spectrometer and the Orbitrap; and MS/MS (tandem-in-space, tandem-in-time and data acquisition), illustrated with clinical examples. Current applications in (1) bacterial and fungal identification, antimicrobial susceptibility testing and phylogenetic classification, (2) general unknown urine toxicology screening and expanded new-born metabolic screening and (3) clinical metabolic profiling by gas chromatography are outlined. Finally, major limitations of MS-based techniques, including the technical challenges of matrix effect and isobaric interference; and novel challenges in the post-genomic era, such as protein molecular variants, are critically discussed from the perspective of service laboratories. Computer technology and structural biology have played important roles in the maturation of this field. MS-based techniques have the potential to replace current analytical techniques, and existing expertise and instrument will undergo rapid evolution. Significant automation and adaptation to regulatory requirements are underway. Mass spectrometry is unleashing its potentials in clinical laboratories.

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