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Title: Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis
Authors: Dequeker, Elisabeth
Cuppens, Harry
Dodge, J
Estivill, X
Goossens, M
Pignatti, P F
Scheffer, H
Schwartz, M
Schwarz, M
Tümmler, B
Cassiman, Jean-Jacques #
Issue Date: Sep-2000
Publisher: Nature publishing group
Series Title: European Journal of Human Genetics vol:8 Suppl 2 pages:S2-24
Abstract: These recommendations for quality improvement of cystic fibrosis genetic diagnostic testing provide general guidelines for the molecular genetic testing of cystic fibrosis in patients/individuals. General strategies for testing as well as guidelines for laboratory procedures, internal and external quality assurance, and for reporting the results, including the requirements of minimal services in mutation testing, the nomenclature for describing mutations, procedures to control false-positive amplification reactions and to validate tests, and guidelines to implement a quality system in a molecular diagnostic laboratory are reviewed.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Human Mutations and Polymorphisms Section (-)
Forensic Biomedical Sciences
Biomedical Quality Assurance Research Unit
# (joint) last author

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