Fig. 1.

Number of activities by type prompted by sequential testing scenario: non-diagnostic CMA followed by diagnostic and non-diagnostic WGS results (n = 93). CMA chromosomal microarray analysis, WGS whole genome sequencing. 1. Lab tests may include genetic, biochemical and hematogy tests. Allied health may include audiology, dietetics/nutrition, occupational therapy and physiotherapy, spech and language therapy and psychology. Other activities may include electrocardiogram (ECG) electroencephalogram (EEG), Holter monitor, visual evoked potential (VEP), electromyography (EMG), Electroretinography (ERG), evoked potential, monitoring and surveillance and other. 2. The number of times a given test was implemented was included in the activity count. 3. Activities that are standard after CMA or WGS tests, validation testing (Sanger sequencing) and genetic counselling were not included