How is Prader | 合法醫療器材資訊網

AsuspecteddiagnosisofPrader-Willisyndrome(PWS)isusuallymadebyaphysicianbasedonclinicalsymptoms.PWSshouldbesuspectedinanyinfantborn ...

A suspected diagnosis of Prader-Willi syndrome[1] (PWS) is usually made by a physician based on clinical symptoms. PWS should be suspected in any infant born with significant hypotonia (muscle weakness or “floppiness”). The diagnosis is confirmed by a blood test. The preferred method of testing is a “methylation analysis,” which detects >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.

Almost all cases of PWS can be confirmed by one of the above tests. However, in the rare event that laboratory tests do not confirm PWS, a clinical diagnosis can be hel...