Chromosomal Microarray Analysis for Constitutional Cytogenetics

Identify anomalies associated with genetic constitutional disorders

Chromosomal microarrays are powerful tools for detecting many types of structural variation

scientists in lab with pipettes

SNP Arrays for Cytogenetics Research

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

Chromosomal microarrays leverage the investigative power of single nucleotide polymorphism (SNP) genotypes to detect imbalances in copy number and allelic homozygosity, which are commonly associated with genetic constitutional disorders.

cytosnp microarray

Benefits of Chromosomal Microarrays

Chromosomal microarrays can detect variations that may be missed by other technologies. Traditional cytogenetic methods for the detection of dosage anomalies (copy number imbalances) are unable to assess allelic homozygosity and therefore miss potentially significant findings.

Unlike oligo arrays, which can only identify copy number changes, SNP chromosomal microarrays can identify copy neutral changes, such as uniparental disomy (UPD), and loss of heterozygosity.

Featured Constitutional Cytogenetics Research

UK Laboratory Uses SNP Array to Enhance Cytogenetics Analysis

Ease of use and high-quality data support a smooth transition from oligo arrays to chromosomal microarrays.

Cytogenetic Testing Illuminates Congenital Abnormalities and Cancer

Trilochan Sahoo, MD discusses how he uses chromosomal microarrays to scan the entire genome for common or rare alterations.

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.

Illumina chromosomal microarrays

Comprehensive Coverage for Constitutional Cytogenetics

Our chromosomal microarrays offer:

  • High resolution for assessing regions of the genome associated with genetic disease
  • Analytical sensitivity for detection of low-level mosaics
  • Reproducible data with challenging samples, including FFPE
  • Simple workflows

Featured Products

Human CytoSNP-12 BeadChip
Human CytoSNP-12 BeadChip

This 12-sample array enables analysis of genetic and structural variation in the human genome, such as duplications, deletions, amplifications, copy-neutral LOH, and mosaicism.

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CytoSNP-850K BeadChip
CytoSNP-850K BeadChip

This consortium-built array provides comprehensive coverage of cytogenetically relevant genes for congenital disorders and cancer research.

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NextSeq 550 System
NextSeq 550 System

The NextSeq 550 System provides flexible power for whole-genome or targeted sequencing plus the ability to scan microarrays—the only such system with dual capabilities.

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Related Applications

Cytogenetics to Cytogenomics

This introduction discusses the advantages of genomic technologies for constitutional cytogenetics.

Cytogenomics Techniques

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

Clinical Cancer Research

See how the latest advances in genomic technologies can help to identify important mutations in cancer.