Seek greater clarity in the analysis of chromosomal aberrations


Understanding chromosome aberrations through cytogenomic 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 variation.

NGS can be used to confirm copy number variants detected by arrays. Together, the 2 methods are ideal for cytogenomic studies across a spectrum of reproductive and genetic health 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 often at a low resolution. As a result, data from these methods can often be inconsistent.

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

  • Thorough coverage
  • Higher detection sensitivity for low-level mosaics
  • Simplified workflows easily incorporated into any lab
  • Proven Infinium Assay chemistry for confident results
View Cytogenomic Array Kits

BlueFuse Multi Software provides molecular cytogenetic and in vitro fertilization (IVF) data analysis in a single framework.

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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

Learn how NGS is transforming research.

Read Introduction
iScan Array Scanner
iScan Array Scanner

iScan System offers a dramatic reduction in array scanning time.

View System
Cytogenetics Expert Interview
Cytogenetics Expert Interview

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

Read Interview
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.

Read Interview