Which should be done first?
Our suggestion is: Start with metabolite testing at JCMI using urine sample, which can be obtained easily and non-invasively, and take a big step toward diagnosis at the highest speed possible and minimum cost. Within a few hours or days, metabolome data can be obtained, and the metabolome-based diagnosis completed. Only for a limited cases, JCMI think it better to confirm by time-consuming mutation analysis or enzyme assay before starting the ideal personalized medicine. JCMI’s Positive Predictive Value had been 100 % for most inborn errors of metabolism thereby reducing the burden on the patient, his/her family and medical personnel.