Table 5.
Diagnostic yield for aCGH and clinical exome sequencing and statistical comparison between both tests.
| CGH array | Clinical exome sequencing | ||||
|---|---|---|---|---|---|
| Phenotype category and subcategory | Solved N (%) |
Total N |
Solved N (%) |
Total N |
Adjusted p value (Mixed effects model) |
| GDD/ID (all) | 64 (8.4%) | 766 | 44 (26.2%)a | 168 | 4.2 × 10−9 |
| GDD/ID isol | 38 (6.9%) | 554 | 11 (16.2%)a | 68 | 0.029 |
| GDD/ID + epi | 6 (16.7%) | 36 | 4 (26.7%) | 15 | 0.740 |
| GDD/ID + micro/macro | 3 (8.3%) | 36 | 5 (55.6%)a | 9 | 0.015 |
| GDD/ID synd | 17 (12.1%) | 140 | 24 (31.5%)a | 76 | 0.004 |
| ASD (all) | 13 (3.0%) | 439 | 3 (6.1%) | 49 | 0.498 |
| ASD isol | 11 (2.8%) | 386 | 0 (–) | 32 | 1 |
| ASD + epi | 0 (–) | 12 | 1 (25.0%) | 4 | 1 |
| ASD + micro/macro | 0 (–) | 14 | 1 (25.0%) | 4 | 1 |
| ASD synd | 2 (7.4%) | 27 | 1 (11.1%) | 9 | 1 |
| Other NDDs (all) | 3 (1.4%) | 207 | 2 (7.1%) | 28 | 0.177 |
| Other isol | 3 (1.8%) | 171 | 2 (13.3%) | 15 | 0.065 |
| Other + epi | 0 (–) | 9 | 0 (–) | 5 | 1 |
| Other + micro/macro | 0 (–) | 8 | 0 (–) | 2 | 1 |
| Other synd | 0 (–) | 19 | 0 (–) | 6 | 1 |
| Total | 80 (5.7%) | 1412 | 49 (20%)a | 245 | 7.0 × 10−12 |
For the phenotype: ASD Autism spectrum disorder, GDD/ID Global developmental delay/intellectual disability, Other NDDs other neurodevelopmental disorders, epi epilepsy, isol isolated forms, micro/macro micro/macrocephaly, synd syndromic, F female, M male.
aRefers to phenotypes where the diagnostic yield of clinical exome sequencing is statistically significant compared to aCGH.