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.
Watch our video to find out more.
Our guidelines below are freely available to view and download below.
- Genomic & inherited disorders
Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated with increased risk of cancers.
- Genomic & inherited disorders
Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is a key component of the diagnostic workup of azoospermic and severely oligozoospermic men.
- Genomic & inherited disorders
Inherited cardiomyopathies and arrhythmias (ICAs) are a prevalent and clinically heterogeneous group of genetic disorders that are associated with increased risk of sudden cardiac death and heart failure.
- 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
Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated with increased risk of cancers.
- Genomic & inherited disorders
Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is a key component of the diagnostic workup of azoospermic and severely oligozoospermic men.
- Genomic & inherited disorders
Inherited cardiomyopathies and arrhythmias (ICAs) are a prevalent and clinically heterogeneous group of genetic disorders that are associated with increased risk of sudden cardiac death and heart failure.
- 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.
Webinars
Educational
Playlist
4 Videos
EMQN support videos
Playlist
3 Videos
Individual Assessment of Classification of BRCA and HRR variants
Playlist
14 Videos
Ensuring accurate classification of BRCA1, BRCA2 and HRR gene variants - Run 11 (November 15 2023)
1:24:19
Virtual Educational Masterclass: Accurate Variant Classification and Clinical Impact of Variability
1:31:01
Lessons learned: 2022 EQA scheme for BRCA and other HRR gene variants in ovarian and prostate cancer
1:08:00
Ensuring accurate classification of variants in BRCA1/BRCA2/HRR genes - March 15 2023 - Run 10 Web 1
1:27:05
Ensuring Accurate Classification of BRCA and HRR Variants - 10th December 2020 (Run 5, Webinar 2)
51:57
Ensuring Accurate Classification BRCA1, BRCA2 and HRR Gene Variants - 20 July 2022 (Run 8 Webinar 2)
1:03:05
Ensuring Accurate Classification BRCA1, BRCA2 and HRR Gene Variants - 7 June 2022 (Run 8 Webinar 1)
1:11:49
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)
