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Download our Best Practice guidelines or watch a webinar to learn more about genomic testing excellence

Best Practice

The EMQN community is committed to educating genomic diagnostic service providers in providing the best possible service. We do this through regularly publishing best practice guidelines on the optimum way to test for and report on a wide range of specific diseases. We have adopted an internationally robust method of crafting our guidelines to ensure they are credible and comprehensive.

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Our guidelines below are freely available to view and download below.

  • Category

These guidelines have been worked out based on the long-lasting experience of the authors in the frame of the EAA/EMQN quality control AZF scheme and reflects the consensus of a large group of experts in genetics of male infertility present at the Florence-Utah-Symposium on ‘Genetics of male infertility’.
Developed on behalf of the Genetic Services Quality Committee of the European Society of Human Genetics (ESHG, https://www.eshg.org/).
Outcome of three meetings of the External Quality Assurance group of the European Society of Pathology held in Naples.
The first version of the guidelines was original established at the EMQN Best Practice Meeting, held 23–24 November 2001 in Strasbourg, France, and updated again in January 2006. This new update occurred in December 2013 after distribution of the revised version to participants of the FRAX&EQA.
Initiated during the European Congress of Pathology in Helsinki in September 2011, and refined in a meeting hosted by the Italian Association of Medical Oncology in Naples in 2012.
Output from a Best Practice meeting organised by EMQN in Nijmegen, Netherlands in October 2009 to discuss and formulate consensus-based Best Practice Guide- lines for the molecular diagnosis of deafness caused by mutations at the DFNB1 locus.
  • Category

These guidelines have been worked out based on the long-lasting experience of the authors in the frame of the EAA/EMQN quality control AZF scheme and reflects the consensus of a large group of experts in genetics of male infertility present at the Florence-Utah-Symposium on ‘Genetics of male infertility’.
Developed on behalf of the Genetic Services Quality Committee of the European Society of Human Genetics (ESHG, https://www.eshg.org/).
Outcome of three meetings of the External Quality Assurance group of the European Society of Pathology held in Naples.
The first version of the guidelines was original established at the EMQN Best Practice Meeting, held 23–24 November 2001 in Strasbourg, France, and updated again in January 2006. This new update occurred in December 2013 after distribution of the revised version to participants of the FRAX&EQA.
Initiated during the European Congress of Pathology in Helsinki in September 2011, and refined in a meeting hosted by the Italian Association of Medical Oncology in Naples in 2012.
Output from a Best Practice meeting organised by EMQN in Nijmegen, Netherlands in October 2009 to discuss and formulate consensus-based Best Practice Guide- lines for the molecular diagnosis of deafness caused by mutations at the DFNB1 locus.

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Thought leadership

We also offer a range of other materials to assist you in improving your testing and reporting capabilities.

Calendar

Click on links below to download the calendars for 2022 and 2023 (last updated 16/09/2022)

Monitoring procedures

Molecular pathology schemes

Disease-specific and technical schemes