Molecular Karyotyping
These assays detect aneuploidy, deletions, duplications and gene amplification using a variety of high density microarrays by Illumina with a median marker spacing as low as 1.7 kb. The Human660W Quad and Human1M DNA Analysis BeadChips target an additional 9,000 novel CNV sites to specifically analyze CNV regions. These arrays also detect copy-neutral allelic aberrations such as segmental uniparental disomy.
Human660W Quad BeadChip: PDF
An ideal combination of high-coverage genome-wide SNP and CNV markers in a high-throughput format, this BeadChip builds on the content of the HumanHap 550 BeadChip. For powerful CNV and cytogenetic analysis, included are an additional approximately 100,000 markers developed in collaboration with researchers around the world that target observed common CNVs based on HapMap data.
HumanOmni 1-Quad BeadChip: PDF
Genome-wide coverage from the 1,000 Genomes Project and confirmed disease associations. High marker density and the fewest large gaps ensure precise CNV detection - more than 6,000 common and 5,000 rare CNV regions with 10–15 markers per region. The HumanOmni1-Quad BeadChip’s high-throughput format and low sample input requirements (200 ng) support rapid, cost-effective studies.
Human 1M Duo BeadChip: PDF
This BeadChip has an unprecedented level of coverage for SNP and non-SNP loci and provides uniform spacing for analysis of both known and novel DNA CNVs with high density coverage for greater than 99% of known genes. The CNV regions represented on this BeadChip include unstable portions of the genome such as segmental duplication, megasatellites, SNP deserts, and the MHC region. It covers most of the CNVs published in the Database of Genomic Variants (DGV) as well as novel CNVs not found in the DGV.
HumanCytoSNP-12 BeadChip: PDF
A 12-sample BeadChip featuring approximately 300,000 genetic markers that target abnormalities associated with more than 300 syndromes containing 200,000 informative tag SNPs. This BeadChip can quickly and cost effectively screen for single-nucleotide polymorphisms associated with diseases, analyze structural variation, and identify copy-neutral LOH events such as uniparental disomy, which are undetectable on current array-CGH products.