Table 2.
Main results of the genetic test performed. Characterised, indeterminate, and negative ASD cases according to the age of the patient at which the analysis was requested are shown. Percentages are calculated from the total row. CMA = chromosomal microarray; WES = whole exome sequencing.
| Characterised Cases | Indeterminate Cases | Negative Cases | Total | |
|---|---|---|---|---|
| Patients < 5 years old | 7 (3.9%) | 28 (15.7%) | 144 (80.4%) | 179 (100%) |
| WES | 5/114 | 13/114 | 96/114 | |
| CMA | 2/155 | 17/155 | 136/155 | |
| FMR1 testing | 0/116 | 0/116 | 116/116 | |
| Patients ≥ 5 years old | 37 (22.5%) | 31 (19%) | 96 (58.5%) | 164 (100%) |
| WES | 28/111 | 12/111 | 71/111 | |
| CMA | 7/152 | 19/152 | 126/152 | |
| FMR1 testing | 2/90 | 0/90 | 88/90 | |
| Total general | 44 (12.8%) | 59 (17.2%) | 240 (70%) | 343 (100%) |