Clinical Presentation And Diagnosis Diagnosis

Diagnosis of CF is based on two separate elevated sweat chloride concentrations of 60 mEq/L (60 mmol/L) or greater obtained through pilocarpine iontophoresis (referred to as the "sweat test"). Genetic testing (CFTR mutation analysis) may be performed to confirm the diagnosis, screen in utero, or detect carrier status. More than 70% of diagnoses are made by 12 months of age and almost all are made by age 12. Many states have added CF to their routine newborn screening panels in an effort to identify patients prior to symptom development. This allows for early intervention with CF therapies and improvement in long-term outcomes. A positive newborn screen for CF is not diagnostic (due to false-positive results among CF carriers), nor does a negative screen universally exclude the diagnosis. All "positive screens" are referred to a CF care center for sweat chloride test and genetic evaluation.

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