Genetic Diagnostic Assessment
Medical Geneticists are specialist doctors who provide a diagnostic service for people suspected of having a genetic disease.
Diagnosing a condition may involve assessment of family history, pregnancy history and medical history as well as an examination for the individual and possibly key family members. There are a range of tests that may be ordered to clarify a diagnosis. Some common examples of tests ordered are blood tests to look at chromosomes or, for DNA analysis, MRI, ultrasound and X-ray.
Sometimes no diagnosis is possible for families. It is often helpful for us to review families after a period of time as research constantly gives us further information about new conditions and better management for existing conditions.