The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism

The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism

The expansion of the recommend uniform screening panel to include more than 50 primary and secondary target conditions has resulted in a substantial increase of false positive results. As an alternative to subjective manipulation of cutoff values and overutilization of molecular testing, here we des...

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Bibliographic Details
Main Authors: Dimitar K. Gavrilov, Amy L. Piazza, Gisele Pino, Coleman Turgeon, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo
Format: Article
Language:English
Published: MDPI AG 2020-04-01
Series:International Journal of Neonatal Screening
Subjects:
Collaborative Laboratory Integrated Reports (CLIR)
false positive rate
newborn screening (NBS)
second tier test (2TT)
Online Access:https://www.mdpi.com/2409-515X/6/2/33

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https://www.mdpi.com/2409-515X/6/2/33

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