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How is PWS diagnosed?

diagnosed PWS
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How is PWS diagnosed?

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Suspicion of the diagnosis is first assessed clinically, then confirmed by specialized genetic testing on a blood sample. Formal diagnostic criteria for the clinical recognition of PWS have been published (Holm et al., 1993), as have laboratory testing guidelines for PWS (ASHG, 1996).

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Suspicion of the diagnosis is first assessed clinically, then confirmed by specialized genetic testing on a blood sample. Formal diagnostic criteria for the clinical recognition of PWS have been published (Holm et al, 1993), as have laboratory testing guidelines for PWS (ASHG, 1996).

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