Video: When Should a GP Consider a Diagnosis of Fragile X?
When should a GP consider a diagnosis of Fragile X, and why is a diagnosis important?
In this 4-minute video Dr Jonathan Cohen from the Fragile X Alliance Clinic in Melbourne discusses developmental delay and other symptoms which warrant referral for a DNA test for Fragile X, and the role of family history in a diagnosis of Fragile X syndrome.
Dr Cohen notes that GPs play a very important role in managing the health of families who are affected by Fragile X. New expanded carrier screening offers women the option of being screened for a large number of genetic conditions including Fragile X, before pregnancy or in the early stages of pregnancy.