In the presence of clinical symptoms (e.g., recurrent respiratory infections), a sweat chloride above 60 mmol/L is diagnostic for CF. Although the results of this test are valid in a newborn as young as 24 h, collecting a sufficient sweat sample from a baby younger than 3 or 4 wk old is difficult. The sweat test can also confirm the diagnosis in older children and adults but is not useful for carrier detection. CFTR mutation analysis is subsequently performed to identify the molecular genetic abnormality and to confirm sweat testing results.
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