Ailments & ConditionsYour Health

What is Prader-Willi Syndrome – 10 Facts You Need to Know

Diagnosis

Many tests can be used for diagnosing Prader-Willi syndrome. Among these, DNA methylation, a genetic test, is the most precise procedure as it is able to detect up to 99 percent of the case. A doctor can also try to detect the condition based on the existing symptoms and signs. Parents should notice any abnormal problems in their children and inform a healthcare provider. To have a definitive diagnosis, a blood test might be needed. It can find out abnormalities in the chromosomes of the children, which indicates the presence of Prader-Willi syndrome. Early testing is important because it can help improve the symptoms and quality of life. In some cases, the condition can be misdiagnosed with autism spectrum disorder or Down’s syndrome due to some overlapping symptoms. [6]