Recommendations for quality improvement in genetic testing for cystic fibrosis european concerted action on cystic fibrosis

E. Dequeker, H. Cuppens, J. Dodge, Xavier P. Estivill, M. Goossens, P. F. Pignatti, H. Scheffer, M. Schwartz, M. Schwarz, B. Tümmler, J. J. Cassiman

Research output: Contribution to journalArticle

56 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)S2-S12
JournalEuropean Journal of Human Genetics
Volume8
DOIs
Publication statusPublished - 2000
Externally publishedYes

Fingerprint

Genetic Testing
Quality Improvement
Cystic Fibrosis
Guidelines
False Positive Reactions
Mutation
Molecular Pathology
Terminology
Molecular Biology

Keywords

  • Cystic fibrosis
  • Genetic testing
  • Guidelines
  • Mutation testing
  • Quality assurance
  • Recommendations

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Recommendations for quality improvement in genetic testing for cystic fibrosis european concerted action on cystic fibrosis. / Dequeker, E.; Cuppens, H.; Dodge, J.; Estivill, Xavier P.; Goossens, M.; Pignatti, P. F.; Scheffer, H.; Schwartz, M.; Schwarz, M.; Tümmler, B.; Cassiman, J. J.

In: European Journal of Human Genetics, Vol. 8, 2000, p. S2-S12.

Research output: Contribution to journalArticle

Dequeker, E, Cuppens, H, Dodge, J, Estivill, XP, Goossens, M, Pignatti, PF, Scheffer, H, Schwartz, M, Schwarz, M, Tümmler, B & Cassiman, JJ 2000, 'Recommendations for quality improvement in genetic testing for cystic fibrosis european concerted action on cystic fibrosis', European Journal of Human Genetics, vol. 8, pp. S2-S12. https://doi.org/10.1038/sj.ejhg.5200487
Dequeker, E. ; Cuppens, H. ; Dodge, J. ; Estivill, Xavier P. ; Goossens, M. ; Pignatti, P. F. ; Scheffer, H. ; Schwartz, M. ; Schwarz, M. ; Tümmler, B. ; Cassiman, J. J. / Recommendations for quality improvement in genetic testing for cystic fibrosis european concerted action on cystic fibrosis. In: European Journal of Human Genetics. 2000 ; Vol. 8. pp. S2-S12.
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