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Table 4 Results of genetic testing

From: Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

  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