Diagnostic yield for exome sequencing tests

The high diagnostic yield to date is 32.7 % (from 1886 cases as of 05/03/2020) – see graph below (click here to enlarge). This is calculated as the number of probands in whom pathogenic or likely pathogenic variants have been reported across all exome testing strategies. The diagnostic yield is dependent both upon the sensitivity of the assay and the prior likelihood of a patient having a monogenic disorder for which the genetic aetiology is currently known.

The pie charts below show the diagnostic yield for each of the strategies we employ;  trio, couple analysis for lethal fetal disorders and bespoke virtual panel analysis. Cases are categorised as no diagnosis, diagnosis or likely diagnosis (variants identified in genes that are good biological candidates but for whom there is currently insufficient evidence to use in clinical decision making).