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Department of Gene Therapy, Imperial College, London, UK. j.c.davies@imperial.ac.uk
Most patients presenting with symptoms and signs of CF are still diagnosed on the basis of a sweat test. CFTR mutation analysis is useful in confirming the diagnosis, screening family members, newborn screening programmes and in those with borderline or normal sweat tests with a high index of suspicion. Nasal PD can also be helpful in the latter group, although there are a number of caveats to its use and interpretation.
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