EMQN Best Practice Guidelines for Genetic Testing in Inherited Cardiomyopathies and Arrhythmias

Abstract 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. Making a genetic diagnosis can inform the management of patients and their at-risk relatives and, as such, molecular genetic testing is now considered an integral component […]

EMQN: LRG reference use in variant reporting guidance

In recognition of the discontinuation of the LRG reference sequence project, EMQN CIC has published a position statement. For more information please see our webinar here. Supporting information on the MANE initiative can be found at the NCBI website or EBI website. Full statement

EMQN CIC CPD accreditation for EQA Assessors

EMQN CIC becomes an accredited provider of Continuing Professional Development (CPD) via CPD UK, and moves to formally accredit the participation of its volunteers / experts in the 2023 EQA assessment process  Manchester, United Kingdom, 16th September 2022 – EMQN CIC announced today that from 2023, EQA assessment meetings will be formally CPD accredited. After successfully […]