Summary
Multigenic and intragenic copy number variation (CNV) are expected to contribute to the molecular etiology of inherited bone marrow failure syndromes (IBMFS). To determine the efficacy of a broad next-generation sequencing (NGS) panel test including robust CNV analysis, we conducted a retrospective review of 495 test reports from patients with suspected IBMFS. Patients received the Blueprint Genetics Inherited Bone Marrow Failure Syndrome Panel, including sequence and copy number variant (CNV) analysis of up to 135 genes. Key results of this analysis include:
- Overall, 17% of individuals received a positive finding
- CNVs contributed to the diagnosis of 16.9% of positive findings
- CNVs ranged from 241 bp to 2.2 Mb and 64.3% of these positive CNV findings were intragenic
This study demonstrates that next-generation sequencing panel testing that includes robust CNV detection can identify positive results in patients with IBMFS.
Authors:
Päivi Kokkonen, Joe Jacher, Alicia Scocchia, Elina Hirvonen, Emma Mårtensson, Hatice Duzkale, Kim Gall, Zöe Powis, Inka Saarinen, Johanna Sistonen, Juha Koskenvuo, Lotta Koskinen, Tero-Pekka Alastalo