Overview of genetic testing in Prader-willi syndrome

Introduction Prader-Willi syndrome (PWS) is a complicated neurodevelopmental genetic disorder stemming from the loss of expression imprinted genes within 15q11-q13 region. It characterized by impaired hypothalamic development and function. Infants with PWS typically present hypotonia feeding difficulties, which in later stages childhood progress to hyperphagia, obesity, endocrine dysfunctions. However, early diagnosis treatment have proven effective mitigating obesity related co-morbidities patients PWS. Moreover, precise molecular classification crucial tailor appropriate strategies provide valuable counseling.