A quantitative method for acylcarnitines and amino acids using high resolution chromatography and tandem mass spectrometry in newborn screening dried blood spot analysis

2012 ◽  
Vol 903 ◽  
pp. 142-149 ◽  
Author(s):  
John H. Miller ◽  
Philip A. Poston ◽  
H. Thomas Karnes
Keyword(s):  
Mass Spectrometry ◽  
Amino Acids ◽  
High Resolution ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Quantitative Method ◽  
Dried Blood Spot ◽  
Tandem Mass ◽  
Blood Spot ◽  
Spot Analysis

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.

Development of tandem mass spectrometry-based creatinine measurement using dried blood spot for newborn mass screening

2017 ◽  
Vol 82 (2) ◽  
pp. 237-243 ◽  
Author(s):  
Masaru Nakano ◽  
◽  
Osamu Uemura ◽  
Masataka Honda ◽  
Tetsuya Ito ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Mass Screening ◽  
Dried Blood Spot ◽  
Tandem Mass ◽  
Creatinine Measurement ◽  
Newborn Mass Screening ◽  
Blood Spot

scholarly journals National Academy of Clinical Biochemistry Laboratory Medicine Practice Guidelines: Follow-Up Testing for Metabolic Disease Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry; Executive Summary

2009 ◽  
Vol 55 (9) ◽  
pp. 1615-1626 ◽  
Author(s):  
Dennis J Dietzen ◽  
Piero Rinaldo ◽  
Ronald J Whitley ◽  
William J Rhead ◽  
W Harry Hannon ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Amino Acids ◽  
Tandem Mass Spectrometry ◽  
Organic Acids ◽  
Newborn Screening ◽  
Tandem Mass ◽  
Confirmatory Testing ◽  
The Us ◽  
The Impact

Abstract Background: Almost all newborns in the US are screened at birth for multiple inborn errors of metabolism using tandem mass spectrometry. Screening tests are designed to be sufficiently sensitive so that cases are not missed. The NACB recognized a need for standard guidelines for laboratory confirmation of a positive newborn screen such that all babies would benefit from equal and optimal follow-up by confirmatory testing. Methods: A committee was formed to review available data pertaining to confirmatory testing. The committee evaluated previously published guidelines, published methodological and clinical studies, clinical case reports, and expert opinion to support optimal confirmatory testing. Grading was based on guidelines adopted from criteria derived from the US Preventive Services Task Force and on the strength of recommendations and the quality of the evidence. Three primary methods of analyte measurement were evaluated for confirmatory testing including measurement of amino acids, organic acids, and carnitine esters. The committee graded the evidence for diagnostic utility of each test for the screened conditions. Results: Ample data and experience were available to make strong recommendations for the practice of analyzing amino acids, organic acids, and acylcarnitines. Likewise, strong recommendations were made for the follow-up test menu for many disorders, particularly those with highest prevalence. Fewer data exist to determine the impact of newborn screening on patient outcomes in all but a few disorders. The guidelines also provide an assessment of developing technology that will fuel a refinement of current practice and ultimate expansion of the diseases detectable by tandem mass spectrometry. Conclusions: Guidelines are provided for optimal follow-up testing for positive newborn screens using tandem mass spectrometry. The committee regards these tests as reliable and currently optimal for follow-up testing. .

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