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Laboratory Testing for Prader-Willi Syndrome

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Management of Prader-Willi Syndrome

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Abstract

Prader-Willi syndrome (PWS) is a disorder of imprinting caused by many different types of mutations, including but not limited to deletions and uniparental disomy (UPD). Many different types of assays and testing strategies have been utilized by clinical laboratories in testing for Prader-Willi syndrome. Since there is a wide mutational spectrum, optimal clinical testing strategies should not only detect as many different types of pathogenic variants that cause this syndrome, but these strategies should also be able to distinguish between these mechanisms to the extent possible. The most comprehensive testing strategies utilized should be designed to maximize sensitivity and accurately determine recurrence risk for the families of patients with Prader-Willi syndrome.

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Authors and Affiliations

  1. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

    Nicole L. Hoppman & Ross A. Rowsey

  2. Children’s Mercy Kansas City/University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA

    Elena Repnikova

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  1. Nicole L. Hoppman
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  3. Ross A. Rowsey
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Correspondence to Nicole L. Hoppman .

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Editors and Affiliations

  1. Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA

    Merlin G. Butler

  2. Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA

    Phillip D. K. Lee

  3. Department of Pediatrics, Saint Louis University, St. Louis, MO, USA

    Barbara Y. Whitman

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Hoppman, N.L., Repnikova, E., Rowsey, R.A. (2022). Laboratory Testing for Prader-Willi Syndrome. In: Butler, M.G., Lee, P.D.K., Whitman, B.Y. (eds) Management of Prader-Willi Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-030-98171-6_3

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