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".)

Canada

●Society of Obstetricians and Gynaecologists of Canada (SOGC)-Canadian College of Medical Geneticists (CCMG): Joint opinion for reproductive genetic carrier screening – An update for all Canadian providers of maternity and reproductive healthcare in the era of direct-to-consumer testing (2016)

United States

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

●American College of Obstetricians and Gynecologists (ACOG): Committee opinion on carrier screening for genetic conditions (2017, reaffirmed 2020)

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

India

●Indian Academy of Pediatrics (IAP): Consensus statement on diagnosis and management of fragile X syndrome in India (2019)