Cytogenomics primarily focuses on structural variability within chromosomes. Understanding chromosome variations through cytogenetic analysis is an integral part of current genomic medicine, playing a role in both constitutional disorders and cancer.
Traditional molecular cytogenomic methods for assessing chromosomal abnormalities, including FISH and karyotyping, enable visualization of the genome, but often at low resolution. Data generated from these cytogenetic analysis methods tend to be inconsistent and highly dependent upon the user’s skills. Cytogenomic microarrays offer a simpler, more reliable, unbiased method that demonstrates higher resolution for assessing chromosomal aberrations. These qualities, along with the fast and standardized cytogenetic analysis workflows, have led to the global adoption of arrays in cytogenomic studies. Next-generation sequencing (NGS) technologies offer detection capabilities even beyond that of arrays.
Illumina is committed to assisting the cytogenomic community in the pursuit of accurate, reproducible chromosome aberration data for constitutional disorders and cancer. For this reason, Illumina acquired BlueGnome, a well-known provider of cytogenetic analysis solutions. Our goal is to offer a cytogenomics product portfolio that provides greater insight into chromosomal aberrations and their biological relevance.
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The American College of Medical Genetics (ACMG) currently recommends array-based cytogenetic analysis tests for use as first-line diagnostic tools. Illumina SNP arrays combine genotype and intensity information, enabling profiling of copy number and copy-neutral events, as well as mosaicism and other factors that can elude standard cytogenetic analysis methods. Learn more about clinical cytogenetics »
Chromosomal aberrations are responsible for a number of genetic disorders, including autism spectrum disorders (ASDs) and Down Syndrome. Illumina offers advanced cytogenomic arrays and next-generation sequencing products to detect disease-associated chromosome aberrations. Learn more about chromosome aberrations and genetic disease »
Genomic instability and chromosomal rearrangements are frequent features of cancer. Illumina offers both array- and sequencing-based approaches to identify these gross cytogenomic abnormalities. Learn more about detecting chromosomal abnormalities in cancer »
Arrays and NGS can provide a deeper understanding of chromosomal aberrations and their impact.
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