Table 1.
Epidemiology and results summary.
| Total number of patients studied | 61 |
|---|---|
| Female | 25 (41%) |
| Male | 36 (59%) |
| Mean age in years (range) | 11 (0–57) |
| Pediatric (<18 years) | 50 (82%) |
| Adult (>18 years) | 11 (18%) |
| 1. Patients with a genetic defect identified by CES | 19 (31%) |
| Pediatric (% success among pediatric patients) | 14 (28%) |
| Adult (% success among adult patients) | 5 (45%) |
| 2. Incomplete genotypes/VUS | 5 (8%) |
| 3. Patients with a genetic defect identified after CES | 7 (11%) |
| Because gene was not included in TSO | 4 |
| Other reasons | 3 |
| 4. Patients without relevant genetic findings | 30 (49%) |
CES, clinical exome sequencing; TSO, TruSight One Sequencing Panel; VUS, variant of uncertain significance.