Jump to ContentJump to Main Navigation
Show Summary Details

Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

12 Issues per year

IMPACT FACTOR increased in 2015: 3.017
Rank 5 out of 30 in category Medical Laboratory Technology in the 2014 Thomson Reuters Journal Citation Report/Science Edition

SCImago Journal Rank (SJR) 2015: 0.873
Source Normalized Impact per Paper (SNIP) 2015: 0.982
Impact per Publication (IPP) 2015: 2.238

See all formats and pricing
Volume 47, Issue 11 (Nov 2009)


Considerations for the development of a reference method for sequencing of haploid DNA – an opinion paper on behalf of the IFCC Committee on Molecular Diagnostics. International Federation of Clinical Chemistry and Laboratory Medicine

François Rousseau
  • Department of Medical Biology, Faculty of Medicine, Université Laval and CHUQ, Québec, Canada
/ David Gancberg
  • Directorate-General Research, European Commission, Brussels, Belgium
/ Heinz Schimmel
  • European Commission, Joint Research Centre, Institute for Reference Materials and Measurements, Geel, Belgium
/ Michael Neumaier
  • Institute for Clinical Chemistry, Mannheim, Germany
/ Alexandre Bureau
  • Department of Social and Preventative Medicine, Faculty of Medicine, Université Laval, Québec, Canada
/ Cyril Mamotte
  • Biomedical Sciences and Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Australia
/ Ron van Schaik
  • Department of Clinical Chemistry, Erasmus MC, Rotterdam, The Netherlands
/ Deborah Payne
  • University of Texas Southwestern, Dallas, USA
/ Mario Pazzagli
  • Department of Clinical Chemistry, University of Florence, Florence, Italy
/ Ian Young
  • Department of Medical Biology, Faculty of Medicine, Université Laval and CHUQ, Québec, Canada
  • Wellcome Research Laboratories, Belfast, UK
Published Online: 2009-10-12 | DOI: https://doi.org/10.1515/CCLM.2009.319


Following the completion of sequencing of the human genome, there has been a very rapid increase in the development of new molecular diagnostic tests. However, the numerous genetic tests and genetic testing technologies offered do not always satisfy essential quality criteria required to ensure confidence in the results that are produced. This is of particular importance for genetic tests since many patients may be tested for a particular genetic defect only once in their lifetime. Thus, there is a pressing need for comprehensive guidelines for the validation of molecular diagnostic tests and procedures, including DNA sequencing, the latter being a fundamental aspect of the development and validation of most genetic tests. To that end, the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Committee for Molecular Diagnostics has prepared the following paper that describes a possible approach to the development of a reference method for sequencing of haploid DNA. We discuss various aspects which should be considered before, during and after applying the sequencing procedure, in order to achieve results with a known level of confidence, including robustness and assessments of quality.

Clin Chem Lab Med 2009;47:1343–50.

Keywords: DNA sequencing; nucleic acids; position paper; reference method

About the article

Corresponding author: Dr. François Rousseau, Département de Biologie Médicale, Faculté de Médecine, Centre Hospitalier Universitaire de Québec et Université Laval, 10 rue de l'Espinay, Québec, Québec G1L 3L5, Canada Phone: +1 418 525 4470, Fax: +1 418 525 4429,

Received: 2009-07-17

Accepted: 2009-07-28

Published Online: 2009-10-12

Published in Print: 2009-11-01

Citation Information: Clinical Chemistry and Laboratory Medicine, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2009.319. Export Citation

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

Pedro H. Oliveira, Kristala L. J. Prather, Duarte M. F. Prazeres, and Gabriel A. Monteiro
Biotechnology Journal, 2011, Volume 6, Number 4, Page 378
Mauro Panteghini, Ian S. Young, and Philippe Gillery
Clinical Chemistry and Laboratory Medicine, 2010, Volume 48, Number 11

Comments (0)

Please log in or register to comment.
Log in