Candidate Gene Reporting

Clinical reporting of candidate genes is based on Ambry’s comprehensive, rule-based scoring criteria. The criteria incorporate Ambry’s variant classification and heavily weigh gene details such as function, tissue and developmental stage expression, in vitro or in vivo functional studies, knowledge of the gene family and/or pathway, animal models, and familial co-segregation analysis.

By applying our Candidate Gene Criteria:

  • We achieve a candidate gene detection rate of 8% among patients referred for diagnostic exome sequencing

Candidate Gene Rate Among Those Having ExomeNext, By Evidence Strength

Evidence Category Candidate Gene % Among Patients Undergoing ExomeNext
Candidate 4.0%
Suspected Candidate 3.7%
Total 7.7%

Amount of Peer-Reviewed Published Candidate Gene Corroboration Over Time

Overall, over half of all reported candidate genes were subsequently corroborated in the peer-reviewed literature among genes reported >12 months prior.

Terminology

Characterized Mendelian disease gene A gene known to underlie at least one Mendelian genetic condition
Uncharacterized Mendelian disease gene A gene that is not currently known to underlie a Mendelian genetic condition
Clinical Validity Based on existing literature and knowledge about gene-disease relationships, clinical validity is the determination that a particular disease is truly caused by pathogenic variants in a particular gene.
Uncharacterized gene-disease relationship A gene-disease relationship and/or mechanism not previously proposed or with limited evidence based on clinical validity assessment
Characterized gene-disease relationship A disease or phenotype whose underlying molecular etiology is established with at least moderate level of evidence based on ClinGen clinical validity assessment
Candidate Gene Criteria Standardized criteria scheme to evaluate the level of available evidence to propose a candidate gene-disease relationship in a previously uncharacterized gene-disease relationship
Idiopathic disease A disease or phenotype whose underlying molecular etiology or etiologies have not been established. For heterogeneous conditions, there may be multiple etiologies.

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