The Region of Interest (ROI) test approach is built on capturing the whole exome and reporting all relevant variants within a specific clinical region of interest. This allows for rapid and focused delivery of results back to ordering providers and avoids the challenges posed by secondary findings in areas not related to the phenotype. The platform on which the Claritas tests are built provides complete coverage of all genes and confirmation of nearly all variants. Therefore, virtually any set of genes can be chosen and effectively used for diagnosing patients. Gene lists can be updated with the latest science, or unusual combinations of phenotypes can be grouped together to provide the most flexible and personalized analysis of the exome. No other commercial offering provides this level of comprehensiveness or flexibility for patients needing rapid and personalized diagnoses for guiding medical decision-making.
The first iteration of this ROI approach is the Pediatric Neurology Region of Interest test which allows providers to select patient-specific disease groups to refine the aperture into a laser-focused view.