Page 265 - Demo

Reporting of genetic diagnoses in multidisciplinary intellectual disability care2638tested according to care files, and the overall number of genetic tests reported increased over time. Of 51 individuals who were reported to have received microarray analysis, 7 (13.7 %) received a diagnosis, and another 18 (35.3%) received additional exome sequencing analysis, yielding 3 (6%) additional diagnoses. Of the total number of individuals who received exome sequencing (N=28), 5 (17.9%) had a genetic diagnosis and 11 (39.3%) a VUS.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 testingN % 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 ± 21.1Total 248 100 51 100FISH, fluorescent in-situ hybridization; ID, intellectual disability; MLPA, multiplex ligation-dependent probe amplification.Annelieke Muller sHL.indd 263 14-11-2023 09:07