Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question. The need for harmonizing reporting practice of genetic tests has been recognised by the External Quality Assessment (EQA), providers and laboratories. The ESHG Genetic Services Quality Committee has produced reporting guidelines for the genetic disciplines (biochemical, cytogenetic and molecular genetic). These guidelines give assistance on report content, including the interpretation of results. Selected examples of genetic test reports for all three disciplines are provided in an annexe.

1st Faculty of Medicine Charles University Prague Institute of Inherited Metabolic Disorders Prague Czech Republic

Biomedical Quality Assurance Research Unit Department of Human Genetics University of Leuven Leuven Belgium

CEQA UK NEQAS for Clinical Cytogenetics John Radcliffe Hospital Oxford University Hospitals NHS Trust Oxford UK

Department of Genetics University of Groningen University Medical Centre Groningen Groningen The Netherlands

Department of Human Genetics Radboud University Medical Centre Nijmegen The Netherlands

Department of Medical Genetics University of Pavia Pavia Italy

Department of Paediatrics Universitäts Kinderspital beider Basel Basel Switzerland

Division 3 Health Forensics Deutsche Akkreditierungsstelle GmbH Office Frankfurt am Main Germany

Division of Obstetrics and Gynecology Clinical Institute of Medical Genetics University Medical Center Ljubljana Slovenia

Hannover Medical School Institute of Human Genetics Hannover Germany

Molecular Genetics of Rare Disorders University Hospital of Montpellier and INSERM U827 IURC Montpellier France

National Centre for Medical Genetics School of Medicine and Medical Sciences University College Dublin Our Lady's Children's Hospital Dublin Ireland

VSOP National Patient Alliance for Rare and Genetic Disorders Soest The Netherlands

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Organisation for Economic Cooperation and Development OECD Guidelines for Quality Assurance in Molecular Genetic Testing2007. Available at http://www.oecd.org/sti/biotech/oecdguidelinesforqualityassurancein genetictesting.htm .

Best practice guidelines on reporting in molecular genetic diagnostic laboratories in Switzerland http://www.sgmg.ch/user_files/images/SGMG_Reporting_Guidelines.pdf .

Clinical Molecular Genetics Society Best Practice Guidelines for Reporting Molecular Genetics results http://www.cmgs.org/BPGs/Reporting%20guidelines%20Sept%202011%20APPROVED.pdf .

ACC Professional Guidelines for Clinical Cytogenetics General Best Practice v1.042007. Available at http://www.cytogenetics.org.uk/prof_standards/acc_general_bp_mar2007 _1.04.pdf .

Berwouts S, Morris M, Dequeker E. Approaches to quality management and accreditation in a genetic testing laboratory. Eur J Hum Genet. 2010;18:S1–S19. PubMed PMC

Bonham J.Quality control annd quality assurance in the biochemical genetic laboratoryIn: Blau N, Duran M, Gibson KM eds.: Laboratory Guide to the Methods in Biochemical Genetics Springer-Verlag: Berlin, Heidelberg; 20087–22.

European General Cytogenetic Guidelines and Quality Assurance2012 , http://e-c-a.eu/files/downloads/E.C.A._General_Guidelines_Version%202.0.pdf .

Fowler B, Burlina A, Kozich V, Vianey-Saban C. Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM. J Inherit Metab Dis. 2008;31:680–689. PubMed

Hastings RJ, Maher EJ, Quellhorst-Pawley B, Howell RT. An internet-based external quality assessment in cytogenetics that audits a laboratory's analytical and interpretative performance. Eur J Hum Genet. 2008;16:1217–1224. PubMed

Specific Constitutional Cytogenetic Guidelines2012 , http://www.e-c-a.eu/files/downloads/Specific_Constitutional_Guidelines_ NL30.pdf .

Sun F, Bruening W, Erinoff E, Schoelles KM. Evaluation Frameworks and Assessment of Analytic Validity (Internet) Agency for Healthcare Research and Quality: Rockville, MD, USA; 2011. Addressing challenges in Genetic Test Evaluation. PubMed

Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone DJ. Good laboratories practices for molecular genetic testing for heritable diseases and conditions. MMWR Recomm Rep. 2009;58:RR-6. PubMed

Lubin IM, Caggana M, Constantin C, et al. Ordering molecular genetic tests and reporting results. J Mol Diag. 2008;10:459–468. PubMed PMC

Tavtigian S, Greenblatt MS, Goldgar DE, Boffetta P. Assessing pathogenicity: overview of results from the IARC unclassified genetic variants working group. Hum Mutat. 2008;29:1261–1264. PubMed PMC

Rinaldo P.Organic AcidsIn: Blau N, Duran M, Gibson KM (eds). Laboratory Guide to the Methods in Biochemical Genetics Springer-Verlag: Berlin, Heidelberg; 2008137–169.

Kraus JP. Cystathionine beta-synthase (human) Methods Enzymol. 1987;143:388–394. PubMed

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