Overall | The group of ‘early TSC diagnosis’ | The group of ‘late TSC diagnosis’ | The group of ‘possible TSC’ | |
---|---|---|---|---|
No. of patients in whom the genetic tests was conducted | 49/100 (49.0%) | 40/82 (48.8%) | 7/13 (53.8%) | 2/5 (40.0%) |
TSC1 mutation | 9 (18.4%) | 7 (17.5%) | 2 (28.6%) | 0 (0.0%) |
TSC2 mutation | 36 (73.5%) | 31 (77.5%) | 5 (71.4%) | 0 (0.0%) |
No mutation identified (NMI) | 4 (8.1%) | 2 (5.0%) | 0 (0.0%) | 2 (100%) |
Average age of patients when the result was obtained (years) | 4.7 ± 7.2 | 4.3 ± 6.0 | 3.5 ± 6.4 | 2.4 ± 0.0 |
Median age of patients when the result was obtained (years) [range] | 1.5 | 1.4 | 6.4 | 2.2 |
[0.1–21.0] | [0.1–21.0] | [0.4–18.0] | [2.0–2.4] | |
No. of mutations detected by age 16 weeks | 3/49 (6.1%) | 3/40 (7.5%) | 0 | 0 |
No. of patients in whom genetic testing enabled TSC diagnosis | 4/100 (4.0%) | 0 | 4/13 (30.8%) | 0 |