Diagnostic (13)C-stable isotope probes are currently being expanded in their scope, to provide precise evaluations of the presence or absence of etiologically significant changes in metabolism due to a specific disease or the lack of a specific enzyme. The salient features of the (13)C-breath test are that they are non-invasive, non-radioactive, safe, simple, and effective. The simplicity of the (13)C-breath test makes it very applicable in a clinical setting: the physician can obtain valuable diagnostic information by distinguishing between two groups or populations on the basis of the recovery of (13)CO(2) from the ingested (13)C-substrate. The breath tests can also be used to monitor the progress of disease severity or to evaluate the efficacy of medications. This review concentrates on current research in the medical field dedicated to the metabolite (13)C-labelled carbon dioxide in exhaled air following ingestion of (13)C-labelled substrates.