Table 2 -. Diagnostic yield of exome sequencing in our cohort of 500 patients with rare diseases (Quaio CRDC et al., 2020) and projected diagnostic yield of NGS panels per clinical indication in the same cohort considering the rates of missed molecular diagnoses shown in Table 1.
| Clinical manifestation | Diagnostic yield | |
|---|---|---|
| Exome sequencing | Projected yield for NGS panels | |
| Neurodevelopmental disorders | 35% | 15% |
| Seizure | 34% | 18% |
| Syndromic/malformative | 41% | 17% |
| Immune/hematological diseases | 19% | 10% |
| Cardiovascular disease | 31% | 7% |
| Metabolic anomaly | 33% | 5% |