Literature DB >> 10888869

Genetic testing and quality control in diagnostic laboratories.

E Dequeker1, J J Cassiman.   

Abstract

To evaluate the quality of genetic testing for cystic fibrosis, 136, 145 and 159 laboratories participated in a European study in 1996, 1997 and 1998, respectively. We sent six purified DNA samples carrying the more common CFTR mutations with the request to test them using routine protocols. A panel of experts reviewed the results together with the raw data.

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Year:  2000        PMID： 10888869     DOI： 10.1038/77008

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  9 in total

1.  Approaches to quality management and accreditation in a genetic testing laboratory.

Authors:  Sarah Berwouts; Michael A Morris; Elisabeth Dequeker
Journal:  Eur J Hum Genet       Date:  2010-09       Impact factor: 4.246

2.  Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories.

Authors:  Jana Camajova; Sarah Berwouts; Gert Matthijs; Milan Macek; Elisabeth Dequeker
Journal:  Eur J Hum Genet       Date:  2008-12-03       Impact factor: 4.246

Review 3.  Genetic testing in bleeding disorders.

Authors:  C de Brasi; O El-Maarri; D J Perry; J Oldenburg; B Pezeshkpoor; A Goodeve
Journal:  Haemophilia       Date:  2014-05       Impact factor: 4.287

4.  Mutation analysis of KRAS prior to targeted therapy in colorectal cancer: development and evaluation of quality by a European external quality assessment scheme.

Authors:  Elisabeth Dequeker; Marjolijn J L Ligtenberg; Sara Vander Borght; Johan H J M van Krieken
Journal:  Virchows Arch       Date:  2011-06-24       Impact factor: 4.064

5.  Rapid and sensitive detection of severe acute respiratory syndrome coronavirus by rolling circle amplification.

Authors:  Bin Wang; Simon J Potter; Yiguang Lin; Anthony L Cunningham; Dominic E Dwyer; Yuelong Su; Xuejun Ma; Yunde Hou; Nitin K Saksena
Journal:  J Clin Microbiol       Date:  2005-05       Impact factor: 5.948

Review 6.  Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors:  C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal:  J Cyst Fibros       Date:  2008-05       Impact factor: 5.482

7.  Technology challenges in screening single gene disorders.

Authors:  Andreas Braun; Richard Roth; Matthew J McGinniss
Journal:  Eur J Pediatr       Date:  2003-10-23       Impact factor: 3.183

8.  Quality standards and samples in genetic testing.

Authors:  David Ravine; Graeme Suthers
Journal:  J Clin Pathol       Date:  2012-01-18       Impact factor: 3.411

9.  11. European Quality Assessment Networks in Molecular Diagnostics.

Authors:  Michael Neumaier
Journal:  EJIFCC       Date:  2008-04-03
  9 in total

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