Not just one: the utility of whole genome sequencing for making a dual molecular diagnosis

Conventional phenotype-driven and stepwise genetic testing is time-consuming and may yield inconclusive results. Moreover, the genetic investigation paradigm often stops at the point of identifying a single diagnosis, potentially overlooking additional underlying genetic etiologies. Whole genome sequencing (WGS) offers a comprehensive solution for genetic investigation by capturing a wide range of genomic variations in a single test. The utility of WGS for making multiple molecular diagnosis in individuals with suspected genetic etiologies was investigated