Journal article
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes
P Blombery, LC Fox, GL Ryland, ER Thompson, J Lickiss, M McBean, S Yerneni, D Hughes, A Greenway, F Mechinaud, EM Wood, GJ Lieschke, J Szer, P Barbaro, J Roy, J Wight, E Lynch, M Martyn, C Gaff, D Ritchie
Haematologica | FERRATA STORTI FOUNDATION | Published : 2021
Abstract
Bone marrow failure (BMF) related to hypoplasia of hematopoietic elements in the bone marrow is a heterogeneous clinical entity with a broad differential diagnosis including both inherited and acquired causes. Accurate diagnostic categorization is critical to optimal patient care and detection of genomic variants in these patients may provide this important diagnostic and prognostic information. We performed real-time, accredited (ISO15189) comprehensive genomic characterization including targeted sequencing and whole exome sequencing in 115 patients with BMF syndromes (median age 24 years, range: 3 months - 81 years). In patients with clinical diagnoses of inherited BMF syndromes, acquired ..
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Awarded by Department of Health and Human Services, State Government of Victoria
Funding Acknowledgements
The study was funded by the State Government of Victoria (Department of Health and Human Services) and the 10 member organizations of the Melbourne Genomics Health Alliance.