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. 2019 Apr 12;2(4):e192129. doi: 10.1001/jamanetworkopen.2019.2129

Figure 3. Current and Alternative Strategies for Genetic Testing in Childhood Epilepsy.

Figure 3.

A, Current strategy: proband-only exome sequencing (ES) followed by parental testing of select patients with inconclusive results and reflex to ES trio testing of the remaining patients with nondiagnostic results. B, Alternative trio ES panel strategy: starts with ES trio (proband plus parents) panel analysis followed by immediate reflex to ES analysis for trios with nondiagnostic panel results. The percentage of cases at each testing stage is extrapolated to the full cohort using this study’s data. Test costs are in reference to proband-only ES panel as the base cost (relative cost: proband-only ES panel: X; trio ES panel: 1.7X; ES trio testing: 2.5X; overall cohort cost: strategy B is less than 10% higher than strategy A).