Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis

Human Mutation

Volumn 29, Issue 8, 2008, Pages 1063-1070

  Berwouts, Sarah ^a   Gordon, Joan T ^b   Rundell, Clark A ^b   Barton, David E ^c   Dequeker, Elisabeth ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b Maine Molecular Quality Controls Inc   (United States)

^c OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

CF; CFTR; Cystic fibrosis; External quality assessment; Proficiency testing; Quality assurance; Synthetic control material

Indexed keywords

SYNTHETIC PEPTIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CYSTIC FIBROSIS; DNA POLYMORPHISM; EVALUATION; GENE MUTATION; PRIORITY JOURNAL; QUALITY CONTROL;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EUROPE; GENETIC SCREENING; HUMANS; MUTATION; QUALITY CONTROL;

EID: 49149084439     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20764     Document Type: Article

References (23)

1. Barton DE, Klein C, Stacey GN. 2004. Certified reference materials for genetic testing. In: Fuchs J, Podda M, editors. Encyclopedia of Medical Genomics and Proteomics. New York: Dekker Encyclopedias p 226-231.
2. Barton DE, Kalman LV. 2007. Reliable genetic testing. BioWorld Eur 1:18-21.
3. Bernacki SH, Stankovic AK, Williams LO, Beck JC, Herndon JE, Snow-Bailey K, Prior TW, Matteson KJ, Wasserman LM, Cole EC, Stenzel TT. 2003. Establishment of stably EBV-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing. J Mol Diagn 5:227-230.
4. Cassiman JJ. 2005. Research network: EuroGentest - a European Network of Excellence aimed at harmonizing genetic testing services. Eur J Hum Genet 13:1103-1105.
5. Chen B, O'Connell CD, Boone DJ, Amos JA, Beck JC, Chan MM, Farkas DH, Lebo RV, Richards CS, Roa BB, Silverman LM, Barton DE, Bejjani BA, Belloni DR, Bernacki SH, Caggana M, Charache P, Dequeker E, Ferreira-Gonzalez A, Friedman KJ, Greene CL, Grody WW, Highsmith WE, Jr, Hinkel CS, Kalman Ly Lubin IM, Lyon E, Payne DA, Pratt VM, Rohlfs E, Rundell CA, Schneider E, Willey AM, Williams LO, Willey JC, Winn-Deen ES, Wolff DJ. 2005. Developing a sustainable process to provide quality control materials for genetic testing. Genet Med 7:534-549.
6. Christensen TM, Jama M, Ponek V, Lyon E, Wilson JA, Hoffmann ML, Bejjani BA. 2007. Design, development, validation, and use of synthetic nucleic acid controls for diagnostic purposes and application to cystic fibrosis testing. J Mol Diagn 9:315-319.
7. Dequeker E, Cassiman JJ. 1998. Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment. Eur J Hum Genet 6:165-175.
8. Dequeker E, Cassiman JJ. 2000. Genetic testing and quality control in diagnostic laboratories. Nat Genet 25:259-260.
9. Dequeker E, Ramsden S, Grody WW, Stenzel TT, Barton DE. 2001. Quality control in molecular genetic testing. Nat Rev Genet 2:717-723.
10. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. 2001a. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3:149-154.
11. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. 2001b. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3:149-154.
12. Grody WW. 2003. Quest for controls in molecular genetics. J Mol Diagn 5:209-211.
13. Hayhurst R, Cassiman JJ. 2006. EuroGentest standing up to scrutiny - first year demonstrates good progress harmonizing community approaches. J Appl Genet 47:5-7.
14. Huang CK, Pan Q. 2007. Validation of cystic fibrosis mutation analysis using ABI 3130XL genetic analyzer. Diagn Mol Pathol 16:57-59.
15. Ibarreta D, Elles R, Cassiman JJ, Rodriguez-Cerezo E, Dequeker E. 2004. Towards quality assurance and harmonization of genetic testing services in the European Union. Nat Biotechnol 22:1230-1235.
16. Jarvis M, Iyer RK, Williams LO, Noll WW, Thomas K, Telatar M, Grody WW. 2005. A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics. J Mol Diagn 7:247-251.
17. Johnson MA, Yoshitomi MJ, Richards CS. 2007. A comparative study of five technologically diverse CFTR testing platforms. J Mol Diagn 9:401-407.
18. Klein B, Kleinman NB, Foreman JA. 1974. Preparation and evaluation of a water-soluble cholesterol standard. Clin Chem 20:482-485.
19. McGovern MM, Elles R, Beretta I, Somerville MJ, Hoefler G, Keinanen M, Barton D, Carson N, Dequeker E, Brdicka R, Blazkova A, Ayme S, Schnieders B, Muller CR, Dalen V, Martinez AA, Kristoffersson U, Ozguc M, Mueller H, Boone J, Lubin IM, Sequeiros J, Taruscio D, Williamson B, Mainland L, Yoshikura H, Ronchi E. 2007. Report of an international survey of molecular genetic testing laboratories. Community Genet 10:123-131.
20. Muller CR. 2001. Quality control in mutation analysis: the European Molecular Genetics Quality Network (EMQN). Eur J Pediatr 160:464-467.
21. Proksch GJ, Bonderman DP. 1978. A water-soluble cholesterol derivative for use in augmenting serum control materials. Clin Chem 24:1924-1926.
22. Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW. 2004. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 6:387-391.
23. Williams LO, Cole EC, Lubin IM, Iglesias NI, Jordan RL, Elliott LE. 2003. Quality assurance in human molecular genetics testing: status and recommendations. Arch Pathol Lab Med 127:1353-1358.