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Informing the future

Education

Diagnostic Biomarkers

Overview

Diagnostic biomarkers are used to confirm that a patient has a particular health disorder. For example, the presence of mutations in the CFTR gene indicate that a newborn has cystic fibrosis. A test used to diagnose a disease often measures a type of biomarker called a “surrogate." Diagnostic biomarkers may facilitate earlier detection of a disorder than can be achieved by physical examination of a patient.