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Specimen Identification Through DNA Analysis

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Molecular Pathology in Clinical Practice

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Abstract

Specimen identification through DNA analysis is an approach to solve several conundrums that may arise during the course of routine laboratory testing. In this chapter methods for specimen identification by DNA analysis are described, including specimen selection and specimen preparation, genotyping approaches, and result interpretation. Clinical applications for these methods are discussed, and example cases demonstrate how the methods can be applied to solve relevant problems such as identification of misidentified specimens, unexpected tissue in a specimen, maternal contamination of a prenatal diagnostic specimen, diagnosis of donor-associated malignancies, graft-vs-host disease, as well as gestational trophoblastic disease.

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Author information

Authors and Affiliations

  1. Department of Pathology, University of Colorado School of Medicine, Aurora, CO, USA

    Gregary Bocsi D.O.

  2. Department of Pathology, Hartford Hospital, Hartford, CT, USA

    Andrew Ricci M.D.

  3. Department of Pathology, Geisel School of Medicine at Dartmouth, Lebanon, NH, USA

    Gregory J. Tsongalis Ph.D.

  4. Norris Cotton Cancer Center, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA

    Gregory J. Tsongalis Ph.D.

  5. Pathology and Laboratory Medicine, Molecular Pathology Laboratory, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

    Vivianna M. Van Deerlin M.D., Ph.D.

Authors
  1. Gregary Bocsi D.O.
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  2. Andrew Ricci M.D.
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  3. Gregory J. Tsongalis Ph.D.
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  4. Vivianna M. Van Deerlin M.D., Ph.D.
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Corresponding author

Correspondence to Vivianna M. Van Deerlin M.D., Ph.D. .

Editor information

Editors and Affiliations

  1. Pathology and Laboratory Medicine, University of Vermont College of Medicine and University of Vermont Medical Center, Burlington, Vermont, USA

    Debra G.B. Leonard

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© 2016 Springer International Publishing Switzerland

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Bocsi, G., Ricci, A., Tsongalis, G.J., Van Deerlin, V.M. (2016). Specimen Identification Through DNA Analysis. In: Leonard, D. (eds) Molecular Pathology in Clinical Practice. Springer, Cham. https://doi.org/10.1007/978-3-319-19674-9_57

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  • DOI: https://doi.org/10.1007/978-3-319-19674-9_57

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-19673-2

  • Online ISBN: 978-3-319-19674-9

  • eBook Packages: MedicineMedicine (R0)

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