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Structural Variants in Hematological Malignancies

Chromosomal aberrations are a major contributing factor to the pathology of hematological malignancies. The first step to understanding the etiology and progression of these malignancies is by detecting and identifying structural and copy-number variants. With this knowledge results may:

  • Increase the number of informed samples
  • Provide a faster time to pathogenic genomic findings
  • Increase the accuracy of sample risk stratifications

The challenge has been that with classical cytogenetics methods researchers cannot detect or resolve many of the relevant chromosomal abnormalities.
Finally, Optical Genome Mapping reveals them.

Optical Genome Mapping (OGM)

Optical Genome Mapping reveals what you need to see

OGM captures all classes of structural and copy-number variants in a single assay—detection that usually takes multiple cytogenetic techniques to capture. Now labs can generate more meaningful information in a simpler and more efficient way.

The OGM genome-wide platform brings unbiased, digital precision to solve unresolved cases across hematological malignancies.

Spans the full genome

Unbiased workflow

Combines high-resolution with digital analysis

Can reliably resolve all classes of structural and copy-number variants in a single workflow

Detects more pathogenic chromosomal abnormalities

Learn about the OGM advantage in hematological malignancies

“There is this wide region of the genome that no one has even looked at or interrogated. And the things you can do using OGM technology…the discoveries, the identification of biomarkers, prognostication, improving therapy, identifying targets, it’s endless. The potential is endless, and I’m super excited to work with this in the future.”

Rashmi Kanagal-Shamanna, M.D.

Assoc. Prof., Dept. of Hematop., Dir., Mol. Diagn. Laboratory–Microarray,
The University of Texas MD Anderson Cancer Center

OGM revolutionizes the way cytogenetics contributes to cancer research

OGM is moving the field of hematological malignancy research forward in two ways:

  1. It provides a single assay to detect the chromosomal aberrations of clinical and biological significance that traditional techniques may detect after two, and often more, assays.
  2. It reveals more with a higher resolution that can resolve complex structures that are otherwise cryptic or completely missed by classical techniques.

High concordance with classical cytogenomic methods

Better characterization and resolution of structural variants

Reveals more pathogenic variants

OGM captures all classes of structural and copy-number variants seen with karyotyping, FISH and chromosomal microarrays—in a single method

“30% of previously unsolved cases for B-ALL, which previously underwent karyotype + FISH +microarray + NGS, were solved using OGM.”

Dr. Gordana Raca, M.D., Ph.D., FACMG

Dir. of Clinical Cytogenomics, Center for Pers. Med. DPLM, Children’s Hospital Los Angeles, Prof. of Clin. Pathol., Keck School of Medicine at USC

Your breakthrough to revealing critical genomic insights


10,000x resolution and higher sensitivity compared to karyotyping


Results >99% concordant with standard cytogenomic methods


5% variant allele frequency (VAF)

The Saphyr® system

OGM with the Saphyr® system is evolving cytogenomics and your lab

OGM with the Saphyr® system is an easy-to-use solution that reduces workflow complexity for researchers into a single assay:

  • Reduced hands-on time—more automated steps
  • Faster time to actionable results—sample-to-answer in 3-5 days
  • Cost savings from running fewer assays
  • Sophisticated software to visualize and call variants, annotate, interpret findings and report results
  • Simplified operations and training

In-depth ebook

The Next Revolution of Cytogenomics in Hematological Malignancies

Cytogenomics is essential for understanding the etiology and progression of hematological malignancies. Learn how the innovative OGM method is revolutionizing the landscape and explore the advantages of OGM through real-world experiences supported by peer-reviewed publications.



Watch this exclusive video series, where multiple esteemed experts in the field of Hematological Malignancies unveil the transformative impact of Optical Genome Mapping (OGM) on the exploration of structural variants in disease samples. Each video delves into the critical role of structural variants in genomics and disease, highlighting the constraints of traditional cytogenetic methods and the superior capacity of OGM to uncover pathogenic variants. Discover through their insights how OGM not only elevates the standard of care but also streamlines laboratory workflows, offering a digital, genome-wide, and high-resolution approach.

Publications and resources

Additional Resources

Publications Library

Find the latest research in our Publications Library.

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Why Structural Variation Matters

Read about what structural variations are and why they matter.

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The Saphyr® System

Reveal genome-wide structural variation with the Saphyr optical genome mapping system.

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