HumanCytoSNP-12 v2.1 BeadChip Kit

This 12-sample BeadChip array enables analysis of genetic and structural variation in the human genome, such as duplications, deletions, amplifications, copy-neutral LOH, and mosaicism. 続きを読む...
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HumanCytoSNP-12 v2.1 BeadChip Kit (12 samples)



HumanCytoSNP-12 v2.1 BeadChip Kit (24 samples)



HumanCytoSNP-12 v2.1 BeadChip Kit (48 samples)



HumanCytoSNP-12 v2.1 BeadChip Kit (288 samples)



HumanCytoSNP-12 v2.1 BeadChip Kit (1152 samples)




The 12-sample HumanCytoSNP-12 BeadChip is a powerful whole-genome scanning panel designed for efficient, high-throughput analysis of genetic and structural variations that are relevant to human diseases. This scalable, proven solution offers substantially better resolution to detect smaller regions than fluorescence in situ hybridization (FISH) or comparative genomic hybridization (CGH).1

  • Complete panel of genome-wide tag single nucleotide polymorphisms (SNPs) and markers targeting all regions of known cytogenetic importance, incorporating ~300,000 “best of the best” SNPs with the highest tagging power
  • Average SNP call rates and reproducibility of > 99.9%, and low noise for copy number measurements
  • Detect many types and sizes of structural variation in the human genome that affect phenotypes, including duplications, deletions, amplifications, copy-neutral loss of heterozygosity (LOH), and mosaicism
  • Process up to 12 samples in parallel, increasing sample throughput and decreasing experimental variability
  • Process samples using the single-tube, PCR-free Infinium HD Assay that requires only 200 ng DNA per sample
  • Comprehensive data analysis with intuitive BlueFuse Multi Software streamlines copy number assessment and results reporting

The HumanCytoSNP-12 BeadChip is optimized to detect cytogenetic abnormalities most relevant to human disease.1-2 Content includes ~300,000 SNPs targeting regions shown to be important for cytogenetic analysis. The result is dense coverage of ~250 disease regions, including subtelomeric regions, pericentromeric regions, and sex chromosomes, commonly screened in cytogenetics labs. Sufficient SNP coverage is provided to determine dosage sensitivity of > 800 genes.

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  1. Srebniak MI, Boter M, Oudesluijs GO, et al. Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities. Mol Cytogenet. 2012;5(1):14. doi: 10.1186/1755-8166-5-14.
  2. Bejjani BA, Shaffer LG. Clinical utility of contemporary molecular cytogenetics. Annu Rev Genomics Hum Genet. 2008;9:71-86.