Figure 2. Diagnostic Outcomes.

A, Diagnostic outcome for different testing modules: proband-only panel, parental follow-up, exome sequencing (ES) trio reflex analysis, and overall. B, Diagnostic outcome by age at onset. C, Diagnostic reclassification by successive genetic testing. Numbers in circles indicate numbers of patients being retested.

^aParental testing indicated for 28 of 64 patients (43.8%).

^bOne patient was tested by both parental and ES trio follow-up and was also rendered negative.

^cParental testing revealed the apparent de novo nature of the variants.

^dIn genes not included in the panel.