Cytogenomics primarily focuses on structural variability within chromosomes. These variations can be substantial and have a major influence on phenotype. Understanding chromosome variations through cytogenomic profiling 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, yielding minimal information. The development of microarrays specific for molecular cytogenetic analysis has greatly increased the amount and quality of obtainable chromosomal information. 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 workflows, have led to their wide validation and global adoption as a tool 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 data for understanding the relevance of chromosomal aberrations in constitutional disorders and cancer. For this reason, Illumina acquired BlueGnome, a company known for providing cytogenetic analysis solutions for the screening of chromosomal abnormalities. Our goal is to offer a cytogenomics product portfolio that enables people to gain 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 array technology combines genotype and intensity information to detect chromosomal aberrations, enabling profiling of copy number and copy-neutral events. Additionally, the arrays can identify mosaicism and other factors that can elude standard cytogenetic analysis methods. Learn more about clinical cytogenetics »
Chromosomal aberrations, or abnormalities in structure or number of chromosomes, 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 increase access to chromosomal information for detecting these aberrations. Learn more about chromosome aberrations and genetic disease »
Chromosomal abnormalities frequently occur in cancer cells. Understanding these cytogenomic changes can provide insight into the etiology, prognosis, and sometimes treatment, of the disease. Illumina offers both array- and sequencing-based approaches to identify these gross chromosomal changes. Learn more about chromosomal abnormalities in cancer »
Arrays and NGS can provide a deeper understanding of chromosomal aberrations and their impact.
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