32. Genetic diagnosis of bone marrow failure syndromes: Strategies, yields, and challenges

Bone marrow failure syndromes (BMFS) are a group of heterogeneous disorders often associated with germline changes in pediatric patients, known as inherited BMFS (IBMFS). We developed an NGS panel interrogating 159 genes associated with IBMFS, which evaluates sequence and copy number variations. Testing can be ordered as a comprehensive panel or several sub-panels with reflex to a larger panel. A total of 236 patients were tested and a definitive or possible molecular diagnosis was found in 39 cases (16.5%) including 2 patients carrying two potential genetic etiologies.

Source: Cancer Genetics and Cytogenetics - May 31, 2020 Category: Genetics & Stem Cells Authors: Minjie Luo, Lea F. Surrey, Yiming Zhong, Daniel J. Gallo, Elizabeth H. Denenberg, Elizabeth A. Fanning, Fumin Lin, Xiaonan Zhao, Jinhua Wu, Jeffery Schubert, Kristin Zelley, Michele E. Paessler, Joseph H. Oved, Helge D. Hartung, Michele P. Lambert, Peter Source Type: research