Video: When Should a GP Consider a Diagnosis of Fragile X?

July 25th, 2017

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.

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