Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System

Newborn screening is designed for pre-symptomatic identification of serious conditions with effective early interventions. Clinical laboratories must perform prospective pilot studies to ensure that the analytical performance and workflow for a given screening test are appropriate. We assessed the potential to screen newborns for fragile X syndrome, a monogenic neurodevelopmental disorder, by establishing a customized, high-throughput PCR and analysis software system designed to detect fragile X mental retardation 1 gene repeat expansions from dried blood spots.

Source: Journal of Molecular Diagnostics - December 18, 2019 Category: Pathology Authors: Stacey Lee, Jennifer L. Taylor, Charles Redmond, Andrew Hadd, Jon A. Kemppainen, Brian C. Haynes, Scott Shone, Donald B. Bailey, Gary J. Latham Tags: Regular Article Source Type: research