Table 4.
Types of tests reported in medical care files of 141 individuals with ID
| Type of test | Number of tests | Confirmed diagnosis | Age at testing | ||
|---|---|---|---|---|---|
| N | % | N | % | Mean ± SD | |
| Karyotyping | 66 | 26.6 | 15 | 29.4 | 19.1 ± 17.2 |
| Microarray | 51 | 20.6 | 7 | 13.7 | 28.5 ± 17.9 |
| Fragile X testing | 49 | 19.8 | 6 | 11.8 | 28.3 ± 18.3 |
| FISH | 13 | 5.2 | 5 | 9.8 | 25.0 ± 16.4 |
| Exome sequencing | 28 | 11.3 | 5 | 9.8 | 29.4 ± 14.6 |
| MLPA | 3 | 1.2 | 1 | 2.0 | 43.0 ± 2.6 |
| Metabolic | 8 | 3.2 | 0 | 0.0 | 27.3 ± 13.0 |
| Unknown | 30 | 12.1 | 12 | 23.5 | 29.0 ± 21.1 |
| Total | 248 | 100 | 51 | 100 | |
FISH Fluorescent in-situ hybridization, ID Intellectual disability, MLPA Multiplex ligation-dependent probe amplification