Discover constitutional cytogenetic research solutions

Constitutional Cytogenetics

The identification of structural chromosomal aberrations can provide insight into causative relationships with complex phenotypes - including intellectual disability, developmental delay, and congenital anomalies.

HumanCytoSNP-12 and CytoSNP-850k BeadChips are cytogenetic microarrays that leverage the investigative power of SNP genotypes to reliably detect chromosomal imbalances of copy number and allelic homozygosity, which are commonly associated with genetic constitutional disorders.

Solutions for cytogenetic research

CytoSNP microarrays provide additional value to laboratories by being able to detect variations that may be missed by other technologies.

cytoSNP microarray

Traditional cytogenetic methods for the detection of dosage anomalies (copy number imbalances) are unable to assess allelic homozygosity and therefore miss potentially significant findings. Including a high number of SNP markers into the cytogenetic testing method provides a comprehensive assessment of underlying chromosomal anomalies.

Illumina cytogenetic SNP microarrays offer a simple, reliable, unbiased method that demonstrates high resolution for assessing regions of copy number change and absence of heterozygosity.

Our chromosomal microarrays target genes and regions of the genome that are highly associated with genetic disease to extract cytogenetic data that are significant to the investigator.

Extensive coverage
  • Analytical sensitivity for detection of low-level mosaics
  • Reproducible data with challenging samples, including FFPE
  • Simple workflows using the proven Infinium assay chemistry for confident results

From library prep, arrays, and sequencing to informatics, Illumina next-generation solutions empower researchers and clinicians across the globe to find the answers they seek.

We’re here with all the resources you need to accelerate progress. In addition to onsite training, ongoing support, and phone consults, we offer webinars and courses around the world.

world-class solutions and a community of support

Illumina offers a cytogenetics product portfolio that provides insight into chromosomal aberrations and powerful analytical tools to enable quick assessment of the finding’s biological relevance.


A powerful, genome-wide scanning panel designed for efficient, high-throughput analysis of genetic structural variations.

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Provides comprehensive coverage of relevant genes for studies associated with cancer and constitutional disorders.

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NextSeq 550

Perform next-generation sequencing (NGS) and cytogenomic array scanning all on one system.

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Medical Genetics Education

At Illumina, we recognize that education and clinical research are key to unlocking the power of the genome. We strive to advance awareness of the importance of genetics and health by supporting clinical research and providing resources for medical genetics education.

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Medical Genetics
Combined Testing for Cytogenomic Analysis Using CytoSNP-850K+TruSight One

Discover the synergy of next-generation sequencing and arrays.

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Cytogenetics Expert Interview

Trilochan Sahoo, MD discusses the benefits of the CytoSNP-850K BeadChip array.

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Clinical Utility of SNP Genotyping

Discover the use of arrays to investigate individuals with intellectual disability, developmental delay, autism, and congenital abnormalities.

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Cytogenetic Analysis: From Arrays to NGS

Drs. Koehler and Benet-Pages are using the Infinium CytoSNP-850K BeadChip and the TruSight Cancer Panel to analyze chromosomal abnormalities.

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