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

• Main Authors: Dimitar K. Gavrilov (Author), Amy L. Piazza (Author), Gisele Pino (Author), Coleman Turgeon (Author), Dietrich Matern (Author), Devin Oglesbee (Author), Kimiyo Raymond (Author), Silvia Tortorelli (Author), Piero Rinaldo (Author)
• Format: Book
• Published: MDPI AG, 2020-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...