Table 4.
Frequency of Primary Clinical Indications for CES Testing
| Primary clinical indication | Value, n (%) |
|---|---|
| Neurodevelopmental disorder | 298 (42.6) |
| Congenital anomalies | 122 (17.4) |
| Autoimmune disease/immunodeficiency/allergies | 65 (9.3) |
| Other | 53 (7.6) |
| Suspected metabolic or mitochondrial disorder | 27 (3.9) |
| Neuromuscular disorder | 27 (3.9) |
| Gastrointestinal disease | 21 (3.0) |
| Skeletal/connective tissue | 18 (2.6) |
| Hearing loss | 14 (2.0) |
| Hematological disorder | 11 (1.6) |
| Cancer | 10 (1.4) |
| Respiratory disease | 10 (1.4) |
| Growth disorder | 10 (1.4) |
| Liver disease | 6 (0.9) |
| Ophthalmologic issues | 4 (0.6) |
| Integumentary system | 3 (0.4) |
| Renal disease | 1 (0.1) |
Primary clinical indications were itemized into 17 categories. Patients were assigned to one primary category based on the main indication for exome testing.
CES, clinical exome sequencing.