Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-designed Next Generation Sequencing Panel

We report the laboratory validation and clinical utility of a large custom-designed NGS panel, CHOP IBMFS panel, for the diagnosis of IBMFS in a large cohort of pediatric patients. This panel demonstrated excellent analytic accuracy with 100% sensitivity, ≥99.99% specificity, and 100% reproducibility on validation samples.

Source: Journal of Molecular Diagnostics - December 14, 2023 Category: Pathology Authors: Fumin Lin, Kajia Cao, Fengqi Chang, Joseph H. Oved, Minjie Luo, Zhiqian Fan, Jeffrey Schubert, Jinhua Wu, Yiming Zhong, Daniel J. Gallo, Elizabeth H. Denenberg, Jiani Chen, Elizabeth A. Fanning, Michele P. Lambert, Michele E. Paessler, Lea F. Surrey, Kris Tags: Regular Article Source Type: research