Structural variability is recognized as a substantial source of genetic variation, influencing phenotypic changes. The ability to detect and profile these chromosomal aberrations—amplifications, deletions, and rearrangements—will be crucial as studies of cancer and congenital disorders continue to advance.

Genome-Wide Coverage in an Array

Array-based cytogenetic tests are currently recommended by the American College of Medical Genetics (ACMG) for use as first-line diagnostic tools. Illumina SNP array technology combines genotype and intensity information to detect chromosomal aberrations, enabling profiling of copy number and copy-neutral events, as well as identification of mosaicism and other factors that can elude standard cytogenetic analysis methods. Illumina is developing a comprehensive cytogenetic test on the iScanDx platform using this technology, with the intention of submission for clearance as a medical device. The InfiniumDx CytoSNP-12 BeadChip, which will be analyzed on the iScanDx system, will offer approximately 300,000 markers for detection of:

• Amplifications and deletions
• Loss of heterozygosity (LOH)
• Uniparental disomy (UPD)
• Mitotic recombination
• Gene conversion events
• Unbalanced translocations

For investigational use only. Performance characteristics have not been established.