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Home > About PWS > Diagnosis and Genetic Testing

 

An initial clinical diagnosis of PWS can be made by checking the diagnostic criteria


This can be confirmed by genetic testing

Methylation analysis will detect more than 99% of cases, including all of the major genetic subtypes of PWS (deletion, uniparental disomy, or imprinting mutation). A FISH (fluorescent in-situ hybridization) test will identify those patients with PWS due to a deletion, but it will not identify those who have Prader-Willi syndrome by UPD (uniparental disomy) or an imprinting error.

Similar syndromes
There are a number of other syndromes with some characteristics similar to PWS. Check here for a list of these.