Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

These recommendations for quality improvement of cystic fibrosis genetic di agnostic testing provide general guidelines for the molecular genetic testi ng of cystic fibrosis in patients/individuals. General strategies for testi ng as well as guidelines for laboratory procedures, internal and external q uality assurance, and for reporting the results, including the requirements of minimal services in mutation testing, the nomenclature for describing m utations, procedures to control false-positive amplification reactions and to validate tests, and guidelines to implement a quality system in a molecu lar diagnostic laboratory are reviewed.