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Unparalleled Detection of Chromosomal Aberrations in a Single Workflow

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.

  • Genome-wide coverage
  • Higher resolution (10,000x higher than karyotyping)
  • Detects all classes of structural variants in a single assay
  • Increases pathogenic findings in both genetic disease and cancer
  • Digital and automated analysis and calling of variants
  • No cell culture required
  • Detect all chromosomal abnormality classes detected by karyotyping, FISH, and Chromosomal Microarrays (CMAs)
  • Generate results that are highly concordant with standard methods, as proven by multiple peer-reviewed studies
  • Achieve 10,000x higher resolution than karyotyping with less subjective results

 

  • Unveil significantly more pathogenic aberrations than classical cytogenetics using a higher-resolution, genome-wide, and unbiased method
  • Enable more pathogenic findings, resolve cryptic cases, and determine complex events like chromothripsis with much higher precision and resolution
  • Increase the number of cases with positive results, and reduce the rate of cases labeled “normal” due to lack of findings via classical methods
  • Transform your lab workflow by reducing complexity and number of assays, eliminating the need for cell culture, and digitizing result analysis
  • Implement a streamlined end-to-end workflow with multiple automated steps for minimal hands-on time and increased efficiency
  • Leverage sophisticated software solutions to call variants, and to visualize, interpret, and report results

Case Studies

Learn how OGM has simplified and transformed lab workflows, empowering cytogenetic labs to be more efficient while increasing pathogenic findings and the number of informed cases.
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“30% of previously unsolved cases for B-ALL, which previously underwent karyotype + FISH + microarray + NGS, were solved using OGM.”

Dr. Gordana Raca
Children’s Hospital Los Angeles, USA

“The combination of OGM and a targeted NGS panel for genome profiling of myeloid cancer is more cost effective than 60x whole-genome sequencing and provides the most comprehensive genome analysis.”

Dr. Ravindra Kolhe
Augusta University Georgia, USA

“OGM reveals more of what matters: more clinically relevant SVs leading to higher success rates and resolution of unsolved cases.”

Dr. Laïla El-Khattabi
Hôpitaux de Paris, (AP-HP) -Université de Paris, Paris, France

DATA EXAMPLES

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:

  • University of Oulu, Finland
  • University Hospital of Clermont-Ferrand, France
  • Université de Paris, France
  • Hospices Civils de Lyon, France
  • Saint-Joseph University, Lebanon

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:

  • University of Rochester Medical Center, Rochester, NY, USA
  • Medical College of Wisconsin, Milwaukee, WI, USA
  • Columbia University Medical Center, New York, NY, USA
  • Greenwood Genetic Center, Greenwood, SC, USA
  • Medical College of Georgia, Augusta University, Augusta, GA, USA
  • Praxis Genomics, Atlanta, GA, USA
  • University of Iowa Health Clinics, Iowa, IA, USA

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 More About OGM

Read about what structural variations are and why they matter.

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See how OGM reveals structural variation in a way that has never been done before.

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Find the latest research in our Publications Library.

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  1. Neveling K, Mantere T, Vermeulen S, et al. Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping. Am J Hum Genet. 2021;108(8):1423-1435. doi:10.1016/j.ajhg.2021.06.001
  2. Levy B, Baughn LB, Chartrand S, et. al. A national multicenter evaluation of the clinical utility of optical genome mapping for assessment of genomic aberrations in acute myeloid leukemia. Preprint. Posted online November 10, 2020, medRxiv. doi: 10.1101/2020.11.07.20227728
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  9. Mantere T, Neveling K, Pebrel-Richard C, et al. Optical genome mapping enables constitutional chromosomal aberration detection. Am J Hum Genet. 2021;108(8):1409-1422. doi:10.1016/j.ajhg.2021.05.012
  10. Iqbal MA, Broeckel U, Levy B, et al. Multi-site technical performance and concordance of optical genome mapping: Constitutional postnatal study for SV, CNV, and repeat array analysis. Preprint. Posted online December 27, 2021. medRxiv. doi: https://doi.org/10.1101/2021.12.27.21268432
  11. Sahajpal N, Mondal AK, Fee T, et al. Clinical validation and diagnostic utility of optical genome mapping in prenatal diagnostic testing. Preprint. Posted online May 11, 2022. medRxiv.  doi: https://doi.org/10.1101/2022.05.11.22274975