Genetics: European molecular quality network (EMQN)

The European molecular quality network (EMQN) are excited to announce that RYR1 External Quality Assessment (EQA) scheme introduced in 2019 for laboratories performing analysis of variants in the RYR1 gene for related myopathies and malignant hyperthermia susceptibility is also available in 2020.

Although the deadline is already officially closed, late registrations are possible by contacting the EMQN office directly (office@emqn.org).

The RYR1 EQA scheme is designed to test the whole analytical process. Three DNA samples will be distributed to participating laboratories in January 2020 for genetic analysis with case scenarios, the samples are suitable for sequencing and copy number analysis. Clinical reports from the participating laboratories will be evaluated for three elements; genotyping, interpretation, and clerical accuracy by a panel of expert peer assessors.

Please see the EMQN website (https://www.emqn.org) or contact office@emqn.org for further information.