How is Fragile X identified?

Fragile X can be diagnosed by a simple blood test, which can be used to identify affected [full mutation] individuals and carriers [with a pre-mutation] as well as for pre-natal diagnosis. Families should seek a referral to the National Centre for Medical Genetics, Our Lady’s Hospital for Sick Children, Crumlin, Dublin 12 (01 409 6902) from their doctor or specialist.

GP Request form for Genetic Analysis

Consent Form for Diagnostic Molecular Genetic Testing