Best Practice Guidelines
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.
Our guidelines below are freely available to view and download below.
- Genomic & inherited disorders
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.
- Molecular Pathology
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.
- Genomic & inherited disorders
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.
- Genomic & inherited disorders
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.
- Genomic & inherited disorders
These guidelines were established at the EMQN Best Practice Meeting, held at 31st of October 2008 in Nijmegen, The Netherlands.
- Genomic & inherited disorders
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.
- Genomic & inherited disorders
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.
- Molecular Pathology
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.
- Genomic & inherited disorders
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.
- Genomic & inherited disorders
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.
- Genomic & inherited disorders
These guidelines were established at the EMQN Best Practice Meeting, held at 31st of October 2008 in Nijmegen, The Netherlands.
- Genomic & inherited disorders
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.
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)