Table 1 Distribution of cases between disease groups with the corresponding success rate
Pathologies | Number of patients presenting the pathology | Number of patients with established molecular diagnosis | Percentage of patients with established molecular diagnosis (%) |
|---|---|---|---|
Neurodevelopmental disorders | 79 | 24 | 30.4 |
Neuromuscular disorders | 20 | 17 | 85 |
Metabolic and mitochondrial disorders | 19 | 16 | 84.2 |
Renal disorders | 10 | 6 | 60 |
Hearing disorders | 7 | 7 | 100 |
Epilepsy | 6 | 4 | 66.7 |
Bone diseases | 4 | 3 | 75 |
Leukodystrophy | 4 | 3 | 75 |
Visual disorders | 2 | 2 | 100 |
Others | 49 | 30 | 61.2 |
Total | 200 | 112 | 56 |