Starting July 15, we will be offering an oligonucleotide microarray-based test for the detection of exonic deletions or duplications of 54 genes currently tested by sequence analysis in our laboratory. This custom designed array by Agilent technologies contains ~50,000 probes present in an 8x60K 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 test 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. Deletion/duplication testing by array-CGH, in addition to traditional sequence analysis, will provide the most comprehensive mutation analysis and significantly improve the sensitivity of molecular testing in our laboratory.

We are pleased to provide our clients with this new testing option in addition to traditional deletion/duplication analysis by MLPA which will still be available in our laboratory for certain genes. 

Visit the laboratory website for updated costs, TAT and CPT codes, as well as a revised requisition form.   Please contact a laboratory genetic counselor at 773-834-0555 if you have any questions or comments.