Given the large number of genes analyzed via exome or genome sequencing, pathogenic variants may be detected in genes that may be medically significant, but not associated with the primary reason for testing in a given patient.

In rare cases, GeneDx may report an incidental finding in a gene that is not one of the secondary findings genes recommended by the ACMG. These reported findings are always pathogenic variants identified in the coding exons of genes, considered medically actionable, with the results expected to have a significant impact on the patient’s health. When these findings are identified, our clinical team is available to discuss the finding in detail with the ordering provider.