The diagnosis of Prader-Willi syndrome.
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.
Smith
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Department of Cytogenetics, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia. ellies@nch.edu.au
D000293:Adolescent; D002648:Child; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D019175:DNA Methylation; D005260:Female; D005821:Genetic Techniques; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D011110:Polymorphism, Genetic; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics; D012313:RNA / Q000032:analysis
D012313:RNA