When to Consider a Diagnosis of Fragile X (Dr Jonathan Cohen MD)

When should a GP consider a diagnosis of Fragile X, and why is a diagnosis important?Dr Jonathan Cohen from the Fragile X Alliance clinic 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.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. With thanks to ThinkGP (GPCE) for making the short film for Fragile X Association of Australia to raise awareness of Fragile X.