We have used the OrionTM WES clinical services for several years at multiple locations globally to support clinical testing and research, as well as for clinical trials and projects in pharmaceutical drug development.
Our sequence analysis covers clinically important regions of the gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript. In addition, the analysis covers the select non-coding variants specifically defined in databases (e.g. Clinvar). Any variants that fall outside of these regions are not analyzed. Our analysis detects most deletions and duplication events at a single exon resolution (window size ~100-bp). However, in rare situations, single-exon copy number events may not be identified due to inherent sequence or data quality. Because we do CNVs, we identify the del/dup events using the same assay.
The data generated in our lab will lead to a clinical report that is delivered by secure e-mail. The entire process is done with our in-house scientists, genetic counselors, clinical consultants and physicians who are experts.