Next-Generation Cytogenetics

Advance Precision Health and Cancer Research

Survey the entire chromosomal landscape with a single, NGS-based assay

Understanding the structure of our chromosomes is essential for the diagnosis and management of many diseases. Numerical chromosomal abnormalities (aneuploidies), structural rearrangements, and chromosomal damage cause inherited diseases—such as Down, Klinefelter, or Turner Syndrome (which affect 0.4 to 0.9% of newborns¹)—and are associated with cancers such as leukemias and lymphomas.² Despite the importance of chromosomal abnormalities in health and disease, traditional cytogenetics relies on a cascade of cumbersome methods which often fall short in identifying underlying aberrations.

Break Through the Barriers of Traditional Cytogenetics with GPM™

Genomic Proximity Mapping™ is more powerful and simpler than the traditional cytogenetic techniques—karyotyping, fluorescent in-situ hybridization (FISH), and chromosomal microarrays (CMA)—that still define the standard of care. Powered by GPM™, the CytoTerra^® Platform enables next-generation cytogenetics to characterize the breadth of chromosome abnormalities—with a single NGS-based assay, and at higher resolution than karyotyping, FISH, and CMA combined.

Less Time. Less Resources. One Assay.

Our proprietary library preparation method, combined with standard short-read sequencing, is used to map and measure the spatial relationship between any two loci across the full complement of chromosomes in a cell. Advanced computational tools extract this sequential information to detect genetic variation and characterize all major types of chromosomal abnormalities.

The CytoTerra^® Cytogenetics Platform

Genome-wide detection of chromosomal abnormalities in a single, high-resolution, NGS-based assay
Comprehensive cytogenetic information from a wide variety of sample types, including blood and FFPE tissue
Scalable, fast, and cost-effective—no cell culture or dedicated instrumentation required
Integrated sample-to-report product, no advanced NGS experience needed

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GPM™ Technology

Genomic Proximity Mapping traps short-, long-, and ultra-long-range intracellular DNA contacts in DNA extracted from solid tumor or hematological samples. Chimeric junctions originating from the same cell are recovered, converted into a short-read sequencing library, and subjected to paired-end sequencing. The signal increases as the genomic distance between any two loci across the genome decreases. The CytoTerra analysis software extrapolates this unique information with a high degree of confidence, enabling the genome-wide detection of chromosomal abnormalities.

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Diverse Research Applications

Precision oncology			Rare diseases			Cell therapies
Structural variants play an important role in the risk stratification of cancers and inform treatment decisions, especially in the case of hematological cancers. Our technology enables rapid detection and accurate characterization of large structural variants that are difficult to assess with short-read sequencing methods.			The genetic basis of many rare diseases is complex, as disease states are often not the result of simple nucleotide changes. Our approach offers a genome-wide view of the structural variants, including large-scale chromosomal aberrations, that potentially contribute to a disease phenotype.			Cell therapy products require meticulous quality control. The CytoTerra Platform offers a simple, genome-wide assay for confirming the absence of structural variants that may impact genomic stability.

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Curious to learn how you can integrate the CytoTerra^® Platform in your research?

Next-generation Cytogenetics