Fig. 6: Comparative evaluation of molecular diagnostic approaches in the cohort.

a Sankey diagram showing the distribution and reclassification of patients across four diagnostic strategies: standard-of-care, standard-of-care with t-NGS, dMLPA combined with t-NGS, and OGM. Each vertical axis represents one diagnostic approach, while the coloured flows depict how individual patient classification shifts among categories with each successive approach. b Risk stratification comparison across methodologies, showing the proportion of patients classified into different genetic risk groups. The width of each node is proportional to the number of patients in each category.