NimbleGen CGH ISCA Plus Cytogenetic Arrays provide high-density exon-level coverage over cytogenetically relevant regions defined by ISCA, OMIM and Decipher databases. If a lower density array is desired, the ISCA Plus Array offers laboratories the option for selection of matching ISCA design files during the analysis step. Figure 1 demonstrates the complete ISCA Plus Array probe content and how the use of different ISCA design files can extract the probe information desired to match currently available ISCA designs from other array manufacturers.
The addition of SNP probe data to an array allows for detection of LOH which can reveal relevant instances of uniparental disomy (UPD) and other potential causes of disease. In Figure 2, chromosome 15 has a normal copy number result, however, a review of the SNP data in the B allele frequency plot reveals additional relevant genomic information missed by a standard CGH array.
Figure 1: Comparison of ISCA array designs. The NimbleGen CGH ISCA Plus Cytogenetic Array design provides comprehensive backbone spacing and probe coverage for target regions.
Figure 2: Chromosome 15 exhibits Prader-Willi Syndrome through LOH analysis. No copy number variations are
observed in chromosome 15. However, B allele frequency of SNP probes reveal 64 Mb and 6 Mb regions exhibiting loss of heterozygosity (LOH) from maternal uniparental disomy (UPD).