Table 1.
Diagnostic yield (overall) in rare disease categories with more than ten cases per group.
| Genomics England rare disease category | N cases in study | Diagnostic yield [% (95% CI)] |
|---|---|---|
| Cardiovascular disorders | 39 | 12.8 (5.1–25.8) |
| Dysmorphic and congenital abnormality syndromes | 15 | 13.3 (2.9–36.3) |
| Endocrine disorders | 15 | 26.7 (9.7–51.7) |
| Neurology and neurodevelopmental disorders | 232 | 26.3 (20.9–32.2) |
| Ophthalmological disorders | 18 | 44.4 (23.7–66.8) |
| Renal and urinary tract disorders | 12 | 8.3 (0.9–32.8) |
| Skeletal disorders | 16 | 31.3 (13.1–55.6) |
| Tumour syndromes | 16 | 6.3 (0.7–25.7) |
| Ultra-rare disorders | 25 | 12.0 (3.5–28.7) |