What Is Prader Willi Syndrome?
9. Diagnosis
A doctor will often be able to diagnose Prader-Willi syndrome from a clinical examination. This typically includes a physical examination that will help them to look for signs of the condition. The signs include physical characteristics, along with other symptoms like hunger, obesity, and mental deficiencies.
The doctor is still likely to want to confirm the diagnosis, however, and tests are available that will help achieve this. This will tend to mean taking a blood sample to be sent away for examination. Experts will then be able to use this to analyze the patient’s DNA and look for the genes responsible for the condition.
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