This oligonucleotide microarray-based assay allows for the detection of exonic deletions or duplications of 105 genes currently tested in our laboratory. This is a custom designed array by Agilent technologies that contains ~140,000 probes present in a 4x180K format with probes more densely spaced in the exons of the genes being tested. The array has been designed to detect copy number changes as small as 300-400 bp. Single genes and custom panels of clinically related genes can be analyzed for deletions and duplications and results may be confirmed by qPCR, MLPA or alternative methodologies.
This assay will allow deletion/duplication analysis for disorders known to be caused by deletions or duplications within a single gene as well as for disorders for which the frequency of gene deletions/duplications is currently not well established. The array-CGH test is particularly indicated for disorders resulting from loss of function or haploinsufficiency. In addition, testing for exonic deletions/duplications is useful in autosomal recessive conditions in which only one mutation is identified by sequence analysis. This assay will detect exonic deletions/duplications of the 105 genes on the array that may not be detected by whole genome array CGH.