Skip to main content
. 2019 Jun 11;21(11):2413–2421. doi: 10.1038/s41436-019-0554-6

Fig. 3.

Fig. 3

Diagnostic algorithm incorporating exome sequencing (ES) in the clinical evaluation of individuals with unexplained neurodevelopmental disorders (NDDs) (global developmental delay/intellectual disability [GDD/ID] and/or autism spectrum disorder [ASD]). An incomplete diagnosis represents a diagnosis that explains only part of an individual’s phenotype. Factors such as the turnaround time of test, availability of tests, and availability of genetic counseling may be considerations in application of this algorithm in clinical use. aOr technology that supersedes ES such as genome sequencing. CMA chromosomal microarray, CNV copy-number variant.