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Laboratory Methods for the Diagnosis of Hereditary Amyloidoses

  • S. Michelle ShillerEmail author
  • Ahmet Dogan
  • Kimiyo M. Raymond
  • W. Edward HighsmithJr.
Part of the Current Clinical Pathology book series (CCPATH)

Abstract

The laboratory assessment for hereditary amyloidosis is a multistep process beginning with the identification of amyloid in a biopsy specimen. Techniques to further confirm the presence of amyloid and direct subsequent confirmation of amyloid subtype include Congo Red staining, immunohistochemistry, laser capture tandem mass spectrometry, and gene sequencing. Relevant genes related to hereditary amyloidosis are also briefly summarized in this chapter.

Keywords

Amyloid Mass spectrometry Gene sequencing Hereditary amyloidoses TTR amyloidosis Familial amyloidoses 

Notes

Acknowledgments

The authors would like to thank Steven R. Zeldenrust, MD, PhD Consultant, Division of Hematology, Mayo Clinic, Rochester, Minnesota, for his editorial help and clinical support; Jason Theis and Karen Schowalter for their assistance in the mass spectrometry and molecular genetics laboratories, respectively, at Mayo Clinic, Rochester, Minnesota; Tad Holtegaard and Cindy McFarlin for their technical support; and Debbie Johnson and Pam Carter for their administrative support.

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Copyright information

© Springer International Publishing Switzerland 2015

Authors and Affiliations

  • S. Michelle Shiller
    • 1
    • 2
    Email author
  • Ahmet Dogan
    • 3
  • Kimiyo M. Raymond
    • 1
  • W. Edward HighsmithJr.
    • 1
  1. 1.Department of Laboratory Medicine and PathologyMayo Clinic College of MedicineRochesterUSA
  2. 2.Department of Surgical PathologyBaylor University Medical CenterDallasUSA
  3. 3.Departments of Pathology and Laboratory MedicineMemorial Sloan Kettering Cancer CenterNew YorkUSA

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