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Reporting of genetic diagnoses in multidisciplinary intellectual disability care2618family member as legal representative were 2.17 times more likely to have reported information on genetic etiology compared to those with a legal representative other than a family member.Table 2. Factors associated with availability of information on genetic etiology in all files using a logistic regression model (N = 335). 95% CI of BVariable B Lower Upper pAge -.029 .958 .985 <.001Level of ID Mild 0a - - - Moderate 1.211 1.663 6.779 < .001 Severe 1.844 2.984 13.381 < .001 Profound 1.391 1.595 10.123 .003Legal representative b Professional / other 0a - - - Family member .776 1.215 3.882 .009aThis group was designated as the reference category.bThose without a (reported) legal representative were excluded from regression analyses (N=45). CI, confidence interval.Reported diagnosticsGenetic testing was reported for 141 individuals: 82 (58.2%) received a test once, 33 (23.4%) twice, 15 (10.6%) three times, 8 (5.7%) four times, and 3 (2.1%) five times , with a total of 248 tests (Table 3). Metabolic testing additional to genetic testing was reported for eight (5.7%) individuals with none having positive metabolic test results, although specification on type of metabolic test was lacking. Mean age at genetic testing was 27.1 (SD 17.8) years old, with information missing for 7 cases. Karyotyping was reported most frequently (n=73) followed by Fragile X syndrome testing (n=49). In total, 51 individuals were reported to have a genetic diagnosis associated with ID, with genetic test results only available for 19 (Supplementary Table B). Twenty-one individuals (13.9%) were reported to have a VUS, and in 15 individuals (10.0%) a clinical diagnosis or genetic variant was mentioned by the care providers as cause of the ID, but insufficiently or incorrectly described in the absence of a letter of a clinical geneticist.Annelieke Muller sHL.indd 261 14-11-2023 09:07