Document Detail

LC-MS/MS progress in newborn screening.
MedLine Citation:
PMID:  20709048     Owner:  NLM     Status:  In-Process    
Newborn screening programs detect treatable disorders in infants before they become symptomatic. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) has greatly increased the screening possibilities by monitoring levels of amino acids and acylcarnitines. After the initial screening step, LC-MS/MS can also be used in screening positive samples as a second tier test to differentiate between true and false positive samples. As the list of disorders screened for by LC-tandem MS increases, questions arise about screening for untreatable disorders, such as some lysosomal storage diseases (LSDs). For LSDs screening methods are being developed and tested more quickly than treatments are becoming available. This goes against one of the main tenets of newborn screening which requires that a treatment be available. LC-MS/MS can detect several disorders with a single injection, which is important in high throughput laboratories. Measuring different amino acids and acylcarnitines can be used to detect up to 45 different inherited disorders depending on how diseases are counted. The LSD assays are designed in a similar way to detect multiple disorders with common sample preparation and a single injection. The clinical implications of applying this technology to NBS on a large scale in many jurisdictions across the world are discussed.
D C Lehotay; P Hall; J Lepage; J C Eichhorst; M L Etter; C R Greenberg
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Publication Detail:
Type:  Journal Article     Date:  2010-08-13
Journal Detail:
Title:  Clinical biochemistry     Volume:  44     ISSN:  1873-2933     ISO Abbreviation:  Clin. Biochem.     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-01-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0133660     Medline TA:  Clin Biochem     Country:  United States    
Other Details:
Languages:  eng     Pagination:  21-31     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 The Canadian Society of Clinical Chemists. All rights reserved.
Saskatchewan Disease Control Laboratory, Regina, SK, Canada.
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