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.

http://www.genetics.ie/molecular/fragile-x-syndrome/

GP Request form for Genetic Analysis

http://www.genetics.ie/documents/request-form-for-genetic-testing.pdf

Consent Form for Diagnostic Molecular Genetic Testing

http://www.genetics.ie/documents/Consent_Form_for_Diagnostic_Molecular_Genetic_Testing.pdf

http://www.genetics.ie/documents/fragile-x-syndrome.pdf