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. 2023 Jan 27;15:5. doi: 10.1186/s13073-023-01157-8

Table 3.

Molecular diagnosis rates by age and phenotype groups

Neurological Non-neurological Overall
Total no. %Positive (95% CI) Total no. %Positive (95% CI) Total no. %Positive (95% CI)
Age, years
0–2 223 40.4% (34.1–46.9) 209 34.9% (28.8–41.6) 432 37.7% (33.3–42.4)
2–5 132 28.0% (21.1–36.2) 71 33.8% (23.9–45.4) 203 30.0% (24.2–36.7)
≥ 5 185 25.4% (19.7–32.1) 180 30.0% (23.8–37.1) 365 27.7% (23.3–32.5)
Overall 540 32.2% (28.4–36.3) 460 32.8% (28.7–37.2) 1000 32.5% (29.7–35.5)