Inherited Disease Pathogenicity

The inherited disease pathogenicity observation is the interpretation that the results interpreter associates with a genotype finding within the diagnostic gene panel.

Scope

The eMERGE assay is designed to sequence, identify, confirm and report the clinically significant variants in relation to the indication for testing. The inherited disease pathogenicity interpretation is the result that specifies which disease or condition the associated variant finding is pathogenic or likely pathogenic and thus considered clinically significant.

The inherited disease pathogenicity interpretation may also be used to identify secondary findings if it is not associated with the primary indication for testing but still within the secondary finding list of conditions. Secondary finding interpretations are indicated by using the observation-secondaryFinding attribute of the inherited disease pathogenicity association.

This resource is referenced in Overall Interpretation and Diagnostic Gene Panel Grouper observations of the eMERGE report.

Content

eMERGE uses the Inherited Disease Pathogenicity profile which is derived from the GenomicsBase profile and the Observation in turn.