Detecting broken, missing, rearranged, or extra chromosomes provides critical, actionable insights for cancer and genetic diseases, yet traditional cytogenetic methods fall short of discovering key chromosomal aberrations.
Reveal all chromosomal aberrations commonly detected by classical cytogenetics while significantly increasing pathogenic findings with a simpler workflow.
Multiple studies at renowned institutions worldwide show the same outcomes. OGM not only has a high correlation to results from traditional methods but also reveals additional actionable pathogenic abnormalities.1-8
European multi-site consortium, aimed at evaluating OGM’s performance as compared to classical methods (microarray and karyotyping), across 85 constitutional samples. Nearly 100 chromosomal aberrations were evaluated, many mapping to complex regions of the human genome, and involved in repeat-mediated microdeletion/microduplication syndromes.
Institutions involved:
Author’s Conclusion:
“These results highlight the potential for OGM to provide a cost-effective and easy-to-use alternative that would allow comprehensive detection of chromosomal aberrations and structural variants, which could give rise to an era of “next-generation cytogenetics.”
OGM was proven to detect multiple categories of SVs with 100% concordance compared to classical methods.
American multi-center, double-blinded study, aimed to evaluate OGM’s performance, as compared to classical methods (karyotyping, microarray, and FISH), across 331 constitutional samples.
Institutions involved:
Outstanding performance for OGM across all types of SVs evaluated.
OGM was proven to not only achieve 100% concordance with classical cytogenetic methods, but also to unveil new pathogenic aberrations in 46% of a total of 94 amniocentesis samples evaluated.
Author’s statement:
“We report the feasibility and relative ease of implementing OGM for prenatal assessment compared to classical methods with the platform, demonstrating high robust technical and analytical performance and recommend OGM as a first-tier assay in prenatal settings.”
Large-scale study shows 100% concordance between OGM and cytogenetics in prenatal cohort with additional findings.
Learn how OGM meets the challenges of new blood cancer classifications.
Featuring Dr. Adam Smith, University Health Network, Toronto, Ontario, Canada
Watch On-demandHear perspectives from a pathologist and an oncologist on the utility of OGM for evaluation of myelodysplastic syndromes.
Featuring Dr. Rashmi Kanagal-Shamanna and Dr. Guillermo Garcia-Manero, MD Anderson Cancer Center
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| title | SOURCE | Authors |
|---|---|---|
| Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant | February 13, 2023 | Janine Reurink, Erik de Vrieze, Catherina H Z Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D N Astuti, Jordi Corominas Galbany, Janneke J C van Lith-Verhoeven, Charlotte W Ockeloen, Lonneke Haer-Wigman, Carel B Hoyng, Frans P M Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk |
| The snapdragon genomes reveal the evolutionary dynamics of the S locus supergene | October 10, 2022 | Sihui Zhu, Yu’e Zhang, Lucy Copsey, Dongfeng Zheng, Enrico Coen, Yongbiao Xue, Qianqian Han |
| Molecular and genetic mechanisms conferring dissolution of dioecy in Diospyros oleifera Cheng | October 9, 2022 | Peng Sun Jr., Soichiro Nishiyama Jr., Huawei Li Jr., Yini Mai Jr., Weijuan Han Jr., Yujing Suo Jr., Chengzhi Liang Sr., Huilong Du Jr., Songfeng Diao Jr., Yiru Wang Jr., Jiaying Yuan Jr., Yue Zhang Jr., Ryutaro Tao Sr., Fangdong Li Sr., Jianmin Fu Sr. |
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