Multiple stage mass spectrometry: the next generation tandem mass spectrometry experiment

The Analyst ◽  
1994 ◽  
Vol 119 (4) ◽  
pp. 533 ◽  
Author(s):  
Gary L. Glish
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Tandem Mass ◽  
Next Generation ◽  
Mass Spectrometry Experiment ◽  
Tandem Mass Spectrometry Experiment

Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening

2017 ◽  
Vol 30 (9) ◽  
Author(s):  
Jicheng Qian ◽  
Xiaonan Wang ◽  
Jia Liu ◽  
Junyuan Zhong ◽  
Yanqun Le ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Next Generation Sequencing ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Dried Blood Spot ◽  
Tandem Mass ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing ◽  
Blood Spot

AbstractBackground:Tandem mass spectrometry (TMS)-based newborn screening has been proven successful as one of the public healthcare programs, although the practicability has not yet been specifically addressed.Methods:Sixty residual dried blood spot (DBS) specimens from confirmation/diagnosis-insufficient cases discovered by TMS screening were analyzed by targeted next generation sequencing (TNGS) assay.Results:In total, 26, 11, 9, and 14 cases were diagnosed as positive, high risk, low risk, and negative, respectively.Conclusions:Applying the DBS-based TNGS assay for the accurate and rapid diagnosis of inborn errors of metabolism (IEMs) is feasible, competent, and advantageous, enabling a simplified TMS screening-based, TNGS assay-integrated newborn screening scheme highlighting an efficient, executable, and one-step screening-to-diagnosis workflow.

scholarly journals Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing

2020 ◽  
Vol 59 (4) ◽  
pp. 256-263
Author(s):  
Barbka Repič Lampret ◽  
Žiga Iztok Remec ◽  
Ana Drole Torkar ◽  
Mojca Žerjav Tanšek ◽  
Andraz Šmon ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Next Generation Sequencing ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Screening Program ◽  
Tandem Mass ◽  
Next Generation ◽  
Newborn Screening Program ◽  
Expanded Newborn Screening ◽  
Generation Sequencing

AbstractIntroductionIn the last two decades, the introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing of numerous acylcarnitines and amino acids from dried blood spots for detecting many aminoacidopathies, organic acidurias and fatty acid oxidation disorders. The expanded newborn screening was introduced in Slovenia in September 2018. Seventeen metabolic diseases have been added to the pre-existing screening panel for congenital hypothyroidism and phenylketonuria, and the newborn screening program was substantially reorganized and upgraded.MethodsTandem mass spectrometry was used for the screening of dried blood spot samples. Next-generation sequencing was introduced for confirmatory testing. Existing heterogeneous hospital information systems were connected to the same laboratory information system to allow barcode identification of samples, creating reports, and providing information necessary for interpreting the results.ResultsIn t he first y ear of t he expanded newborn screening a total of 15,064 samples w ere screened. Four patients were confirmed positive with additional testing.ConclusionsAn expanded newborn screening program was successfully implemented with the first patients diagnosed before severe clinical consequences.

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