Illumina launches the HumanCytoSNP-12 BeadChip to screen for genetic abnormalities

20 November 2008

Illumina, Inc. (NASDAQ:ILMN) has unveiled a new product for Molecular Cytogeneticists: the Infinium High-Density (HD) HumanCytoSNP-12 DNA Analysis BeadChip. The HumanCytoSNP-12 BeadChip contains nearly 300,000 genetic markers per sample that target all known cytogenetic abnormalities found in genes and disease pathways linked to mental retardation, autism, and other common chromosome anomalies.

Priced as low as $125 per sample, the HumanCytoSNP-12 BeadChip is part of a complete cytogenetic solution available from Illumina. To complement the HumanCytoSNP-12 BeadChip, Illumina is also releasing a dedicated cytogenetic software package called KaryoStudio.

“Different than FISH, array-CGH, or other karyotyping technologies, the HumanCytoSNP-12 BeadChip can quickly and cost effectively screen for single-nucleotide polymorphisms associated with diseases, analyze structural variation, and identify copy-neutral loss of heterozygosity (LOH) events such as uniparental disomy, which are undetectable on current array-CGH products,” said Tristan Orpin, Senior Vice President of Commercial Operations at Illumina.

“In addition, we have designed the KaryoStudio software module. This new software offering addresses researchers needs for easy to use and automated analysis. It enables users to generate simple reports, link to cytogenetic databases, and cross-match findings against known phenotypes. When used with the HumanCytoSNP-12 BeadChip, researchers have access to an integrated, low cost, high-throughput tool set for studying cytogenetic abnormalities.”

The HumanCytoSNP-12 BeadChip is powered by Illumina’s Infinium HD Assay and includes markers that have been hand-selected by Illumina scientists to target specific regions of cytogenetic importance. Deployed on a 12-sample format, researchers for the first time have access to more than 3.6 million genetic markers on one BeadChip.

By utilizing single nucleotide polymorphisms (SNPs) and non-polymorphic probes, the HumanCytoSNP-12 BeadChip can identify deletions, duplications, and uniparental disomy (UPD), or the receipt of two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. Prader-Willi and Angelman Syndromes are two of the most well-known conditions caused by UPD.

“We expanded our array business into this rapidly growing applied market because scientists are struggling to find a tool set that helps them quickly and cost effectively scan the human genome for chromosomal abnormalities,” said Joel McComb, General Manager for Illumina’s Life Sciences Business Unit. “By leveraging our unique development and manufacturing capabilities, we have been able to create the HumanCytoSNP-12 BeadChip to offer a complete panel of genome-wide tag SNPs and additional markers targeting all regions of known cytogenetic importance at unmatched price points.”

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