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  • Title: The diagnosis of Prader-Willi syndrome.
    Author: Smith A.
    Journal: J Paediatr Child Health; 1999 Aug; 35(4):335-7. PubMed ID: 10457285.
    Abstract:
    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.
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