Illumina launches the HumanCytoSNP-12 BeadChip to screen for genetic
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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