Given the large number of genes analyzed via exome or genome sequencing, 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 additional reportable finding in a gene not associated with the patient’s reported phenotype and that is not one of the secondary findings genes recommended by the ACMG. These reported findings are expected to be medically relevant and will typically be pediatric-onset conditions. When these findings are identified, our clinical team is available to discuss the finding in detail with the ordering provider. Note that adult-onset, neurodegenerative disorders will not be reported in presymptomatic patients.