Society guideline links: Fragile X syndrome

Introduction —

This topic includes links to society and government-sponsored guidelines from selected countries and regions around the world. We will update these links periodically; newer versions of some guidelines may be available on each society's website. Some societies may require users to log in to access their guidelines.

The recommendations in the following guidelines may vary from those that appear in UpToDate topic reviews. Readers who are looking for UpToDate topic reviews should use the UpToDate search box to find the relevant content.

Links to related guidelines are provided separately. (See "Society guideline links: Prenatal genetic screening and diagnosis" and "Society guideline links: Autism spectrum disorder".)

United States

●National Fragile X Foundation (NFXF): Resources for professionals – Treatment and intervention recommendations for fragile X

●Fifth International Conference on FMR1 Premutation: Insight and recommendations for fragile X-premutation-associated condition (2023)

●American College of Medical Genetics and Genomics (ACMG): Laboratory testing for fragile X – A technical standard, revision (2021)

●National Society of Genetic Counselors (NSGC): Genetic counseling and testing for FMR1 gene mutations – Practice guidelines (2012)

●American Academy of Pediatrics (AAP): Clinical report on health supervision for children with fragile X syndrome (2011)

Europe

●European Molecular Genetics Quality Network (EMQN): Best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders (2015)

United Kingdom

●Association for Clinical Genetic Science (ACGS): Practice guidelines for molecular diagnosis of fragile X syndrome (2014)

India