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

Developed by a consensus process using the 1998 CMGS guidelines as a starting point. We acknowledge the contribution of Dr David Rubinsztein to the 1998 CMGS guidelines.
These guidelines were established at the EMQN Best Practice Meeting, held at 31st of October 2008 in Nijmegen, The Netherlands.
The most noteworthy issue is that molecular analysis of the COL1A1/2 genes is recommended as the starting point in the diagnostic flow as opposed to protein analysis.
Funded by Eurogentest and by the UK Department of Health. EMQN contributed to this work.
The BP meeting was organised by EMQN and supported by the EU Network of Excellence EuroGentest.
Guidelines resulting from a conference held in Manchester, 25–26 October 2006, with the partnership of EuroGentest and the CF Network (www.cfnetwork.be).
  • Category

Developed by a consensus process using the 1998 CMGS guidelines as a starting point. We acknowledge the contribution of Dr David Rubinsztein to the 1998 CMGS guidelines.
These guidelines were established at the EMQN Best Practice Meeting, held at 31st of October 2008 in Nijmegen, The Netherlands.
The most noteworthy issue is that molecular analysis of the COL1A1/2 genes is recommended as the starting point in the diagnostic flow as opposed to protein analysis.
Funded by Eurogentest and by the UK Department of Health. EMQN contributed to this work.
The BP meeting was organised by EMQN and supported by the EU Network of Excellence EuroGentest.
Guidelines resulting from a conference held in Manchester, 25–26 October 2006, with the partnership of EuroGentest and the CF Network (www.cfnetwork.be).

Webinars

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