EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders

European Journal of Human Genetics (2026)

EMQN Best Practice Guidelines for RYR1 provide expert-led recommendations to support accurate interpretation and clear reporting of genetic variants, helping laboratories deliver consistent, high-quality results that improve patient care.

Key benefits:

  • Standardised, evidence-based approach to variant interpretation
  • Clear and consistent reporting to support clinical decision-making 
  • Improved risk assessment for patients and their families 
  • Enhanced diagnostic quality across laboratories