Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic

This retrospective study reviewed genetic testing practices at a Down syndrome specialty clinic, examining 637 individuals with DS to identify co-occurring genetic conditions beyond the standard chromosome analysis. Of 92 patients who underwent additional testing (chromosomal microarray, gene panels, whole exome sequencing), 11 were found to have secondary genetic diagnoses, supporting the clinical utility of expanded genetic evaluation in DS patients with features suggestive of additional conditions.