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
In 2008 the European Molecular Genetics Quality Network (EMQN) for the first time offered a European-wide external quality assessment scheme for CAH (due to 21-OH deficiency).
- Genomic & inherited disorders
Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants.
- Genomic & inherited disorders
Monogenic autoinflammatory diseases are caused by pathogenic variants in genes that regulate innate immune responses, and are characterized by sterile systemic inflammatory episodes.
- Genomic & inherited disorders
Initial guidelines for the laboratory analysis of PWS and AS were prepared by John Harvey for the CMGS in August 1998.
- Molecular Pathology
A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.
- Technical Assessment
Guidelines resulting from 3 workshops organised and funded by Eurogentest. EMQN contributed to these workshops.
- Genomic & inherited disorders
In 2008 the European Molecular Genetics Quality Network (EMQN) for the first time offered a European-wide external quality assessment scheme for CAH (due to 21-OH deficiency).
- Genomic & inherited disorders
Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants.
- Genomic & inherited disorders
Monogenic autoinflammatory diseases are caused by pathogenic variants in genes that regulate innate immune responses, and are characterized by sterile systemic inflammatory episodes.
- Genomic & inherited disorders
Initial guidelines for the laboratory analysis of PWS and AS were prepared by John Harvey for the CMGS in August 1998.
- Molecular Pathology
A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.
- Technical Assessment
Guidelines resulting from 3 workshops organised and funded by Eurogentest. EMQN contributed to these workshops.
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)