Identifying chromosomal abnormalities in cancer

Technologies for analyzing gene fusions, chromosomal rearrangements, and copy number variants

Chromosomal Abnormalities in Cancer

Genomic instability and chromosomal abnormalities are common features of cancer. Understanding these structural aberrations can provide insight into cancer etiology. Chromosomal abnormalities in cancer include gene fusions, chromosome rearrangements, and copy number variants (CNVs).

Sequencing- and microarray-based technologies offer complementary approaches for identifying chromosomal abnormalities in cancer.


Gene fusions resulting from chromosome translocations are a common chromosomal abnormality in cancer, often driving tumorigenesis. Paired-end RNA sequencing (RNA-Seq) enables researchers to identify non-contiguous sequences accurately by sequencing both ends of an insert.

Learn More About RNA-Seq

Mate pair sequencing is designed to detect structural variants. It provides sequence-specific information about each end of large DNA fragments for a comprehensive assessment of structural variants and chromosomal breakpoints and rapid identification of chromosomal abnormalities in cancer.

Learn More About Mate Pair Sequencing

Microarrays are ideal for detecting CNVs, copy-neutral loss of heterozygosity, low-level mosaicism, and heterogeneity in cancer samples. Thousands of cytogenetically relevant genes are assessed in parallel to provide comprehensive coverage of chromosomal abnormalities in cancer.

Learn More About Arrays
Infinium CytoSNP-850K BeadChip Array
  • Comprehensive coverage of cytogenetically relevant genes
  • Expert-defined content1,2
  • High detection sensitivity
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iScan System
  • Cutting-edge array scanner
  • High sample throughput
  • Industry-leading data quality
  • Flexibility for multiple applications
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TruSeq RNA Access Library Prep Kit
  • Affordable solution for sequencing RNA from FFPE tissue
  • Reduced sample input requirements while maintaining high sensitivity
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Cytogenetic Analysis: From Arrays to NGS
Array + NGS Chromosomal Studies

Lab analyzes chromosomal abnormalities and disease connection.

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Cytogenetics Expert Interview
Cytogenetics Expert Interview

Dr. Trilochan Sahoo discusses microarray-based cytogenetic testing to detect chromosomal abnormalities in cancer.

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Cancer Research Review

An overview of recent cancer research publications featuring Illumina technology.

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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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  1. International Collaboration for Clinical Genomics (
  2. Cancer Cytogenomics Microarray Consortium (