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The diagnosis of Prader–Willi syndrome
Author(s) -
Smith A
Publication year - 1999
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1046/j.1440-1754.1999.00396.x
Subject(s) - medicine , test (biology) , genetic testing , methylation , genetic diagnosis , pediatrics , genetic syndromes , genetics , gene , paleontology , biology
The methylation test can make the diagnosis of Prader–Willi syndrome (PWS) in approximately 99% of patients and is confirmed as a reliable, robust screening test. In a patient with PWS, methylation analysis does not provide the mechanism, for which other different genetic tests are required. Appropriate tests are available in each Australian state.