Seek greater clarity in the analysis of chromosomal aberrations

Cytogenomics

Understanding chromosome aberrations through cytogenetic analysis is an integral part of current genomic medicine, playing a role in research into both constitutional disorders and cancer.

At Illumina, we collaborate with industry experts, thought leaders, and customers to develop solutions to meet your evolving research needs. Now you can perform sequencing and high-quality cytogenomic array scanning all on a single platform.

cytogenomics chromosomal abberations

Next-generation sequencing (NGS) offers detection capabilities that complement arrays. By providing a base-by-base view of the genome, NGS can identify single nucleotide variants (SNV), small structural changes, and balanced translocations, providing researchers with a genome-wide view of chromosomal variation.

NGS can be used to confirm copy number variants detected by arrays. Together, the two methods are ideal for cytogenomic studies across a spectrum of constitutional as well as cancer research applications. Now you can perform both NGS and array scanning on a single system, the NextSeq 550 System.

View NextSeq 550 System

Traditional molecular cytogenomic methods for assessing chromosomal abnormalities, including FISH and karyotyping, enable genome visualization, but generally at a low resolution. As a result, data from these methods can often be incomplete.1

Cytogenomic microarrays offer a simple, reliable method for assessing chromosomal aberrations at a higher resolution. Illumina offers high-quality microarrays designed to detect chromosome aberrations and provide accurate, reliable cytogenomic data with:

  • Thorough coverage
  • High detection sensitivity for low-level mosaics
  • Simplified workflows easily incorporated into any lab
  • Proven assay chemistry for confident results

Featured Cytogenomics Research Stories

Looking for Cancer Clues in the Bloodstream
Looking for Cancer Clues in the Bloodstream

Targeted NGS can identify myeloid-related genes with greater sensitivity than Sanger sequencing or cytogenetic methods.

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Comprehensive Panel for Gene Fusion Detection
Comprehensive Panel for Gene Fusion Detection

Ravindra Kolhe, MD, PhD, discusses using the TruSight RNA Fusion Panel to study gene fusions in cancer.

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Cytogenetic Testing Offers Insights into Recurrent Pregnancy Loss
Cytogenetic Testing Offers Insights into Recurrent Pregnancy Loss

Trilochan Sahoo, MD discusses the benefits of the CytoSNP-850K BeadChip for cytogenetics researchers.

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Why Cytogeneticists Are Using NGS with FISH

NGS can save time and money while enabling you to meet best practices for analyzing samples with unknown abnormalities.

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Cytogenetics Infographic

BlueFuse Multi Software analyzes array-based molecular cytogenetic and in vitro fertilization (IVF) data as well as NGS-based IVF data.  It offers a clear, intuitive user interface and scales for the needs of your lab.

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Why Cytogeneticists Are Using NGS with FISH

NGS can save time and money while enabling you to meet best practices for analyzing samples with unknown abnormalities.

View Infographic
Cytogenetics Infographic

Learn how to use complementary microarray and sequencing technologies for thorough analysis of chromosomal changes with this in-depth introduction.

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Cytogenetics to Cytogenomics
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Novel Fusions and Pharmacogenomic Targets in Cancer
Novel Fusions and Pharmacogenomic Targets in Cancer

Learn about the optimization and validation of commercially available clinical NGS assays.

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Arrays and NGS for Chromosomal Studies
Chromosomal Genetics Studies with Arrays and NGS

Laboratory adopts the newest technologies to analyze chromosomal abnormalities and their connection to disease.

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NGS Complements Traditional Cytogenetic Methods
NGS Complements Traditional Cytogenetic Methods

Genomic analysis of tumors provides comprehensive detection of genetic abnormalities.

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Cytogenetics Expert Interview
Cytogenetics Expert Interview

Trilochan Sahoo, MD discusses the benefits of the CytoSNP-850K BeadChip for cytogenetics researchers.

Read Interview
One System for NGS and Arrays
One System for NGS and Arrays

Perform sequencing and high-quality cytogenomic array scanning, all on the NextSeq 550 System.

Read Data Sheet
Transform Your Research with NGS
Transform Your Research with NGS

Find out more about how NGS technology works and what it can do for you.

Learn More
References
  1. PROFOUND. Molecular Cytogenetics (FISH, Fluorescent In Situ Hybridization, Array-Based). Rep. no. 271067. N.p.: Global Industry Analysts, 2016. Print.