Cytogenomics - Phase Genomics

Reveal the Topography of the Genetic Map

The current approach to cytogenetics involves a cascade of methods that includes sequential testing via karyotyping, chromosomal microarray (CMA), and fluorescence in situ hybridization (FISH). Combined, these methods can be used to create a map of chromosome abnormalities and impact the diagnosis and treatment of genetic conditions. This approach is time-consuming, labor-intensive, expensive, and leaves undefined or ill-defined areas on the chromosomal map.

Single, genome-wide assay

The CytoTerra™ Platform takes cytogenetics to the next level. It eliminates the gaps and challenges associated with the current approach to deliver a comprehensive picture of the genomic landscape. Powered by Phase Genomics’ proprietary technology, the CytoTerra Platform leverages the unique strengths of ultra-long-range genome sequencing to characterize the breadth of chromosome abnormalities, at higher resolution than standard cytogenetic analysis, CMA, and FISH combined.

Identify SVs and CNVs, and characterize other complex rearrangements in both pre- and postnatal specimens

		Detect cryptic rearrangements associated with recurrent pregnancy loss (RPL). Uncover these karyotypically undetectable rearrangements with a faster, cheaper alternative to CMA.
		Unlock genomic information hidden within non-viable and/or FFPE samples. Ultra-long-range sequencing technology does not require actively dividing cells or high molecular weight DNA extraction and requires a very low starting cell volume.
		From a single sample, resolve complex and challenging fetal and adult phenotypes caused by multiple congenital anomalies—with a comprehensive, cost-effective complement for CMA.

Automated analytics yield actionable results

Phase Genomics is a recognized leader in the development and implementation of advanced, high performance computational platforms and tools to unlock the power of proximity ligation sequencing data for genome scaffolding and metagenomic analysis.

The CytoTerra Platform comprises a new molecular technology with companion analytics. The novel, fully automated analysis and reporting module builds on Phase Genomics’ industry-leading capabilities, delivering comprehensive and actionable results in standard ISCN and sequence-based nomenclature.

The CytoTerra Platform is currently offered by Phase Genomics as a comprehensive sample-to-report service. Contact us to inquire about ASR kits compatible with existing low- and high-throughput sample processing pipelines.