In order to best meet the needs of the clinical providers and patients we serve, our molecular laboratory offers custom testing options, or Focused Exomes, for sequencing of single genes and multi-gene panel requests. These customizable tests are Next Generation Sequencing (NGS) based assays utilizing our whole exome sequencing platform, the Agilent SureSelect Clinical Research Exome kit. Healthcare providers can select from one up to 15 genes for these focused exome requests. While a focused exome can include more than 15 genes, these are considered on a case by case basis. We recommend you contact the laboratory and discuss the case and gene(s) of interest with one of our laboratory genetic counselors or directors prior to submitting the test order. Focused exomes may have low coverage for certain exons, genes, or regions included in the request given the nature of an exome platform. These details can be reviewed and discussed on an individual case basis. Similar to whole exome sequencing and our established NGS panels, all variants are confirmed with Sanger sequencing before being reported out. We hope that the option of a focused exome will provide flexible and efficient diagnostic tests for those patients that don’t have other appropriate testing options.
Varies by gene; contact the lab