The ATP7B, CPS1, GALC, GLA, GLDC, NPC1, and OTC genes are associated with non-RUSP listed conditions such as Wilson’s disease, carbamoyl phosphate synthetase I deficiency, Krabbe’s disease, Fabry disease, glycine encephalopathy 1, Niemann–Pick disease, and ornithine transcarbamylase deficiency, respectively, were also commonly tested (Supplementary File S4). The gene discussed is NPC1; the disease is hyperinsulinemic hypoglycemia, familial, 4.