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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.

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