Support after diagnosis

For advice on supporting a person (and their parents or carers) during and after a developmental disability diagnosis (including fragile X syndrome), see Discussing a developmental disability diagnosis.

The general practitioner (GP) can facilitate genetic counselling for a person with a fragile X syndrome diagnosis by:

• referring the person and their family to a clinical geneticist or genetic counsellor, where possible
• providing clear and accurate information to confirm the diagnosis (full or premutation)
• explaining clinical characteristics and arranging for appropriate multidisciplinary management (see also Facilitating a multidisciplinary approach to care of people with developmental disability)
• helping to identify other family members who may carry the gene and ensuring they are offered testing—the mother of an affected person may carry the full mutation or premutation and is generally the first relative to be tested. If positive, all her first-degree relatives should be tested; results inform who to test next.

For general advice on genetic counselling, see the Royal Australian College of General Practitioners (RACGP) guidelines on Genomics in general practice.

Detection of premutation carriers enables access to information about fragile X–related disorders and reproductive decision making. For advice on the risk of premutation recurrence, see Pattern of inheritance.