Chapter 2. Molecular Pathology: Applications of Genomic Analyses to Diagnosis of Genetic Diseases

  1. J. M. Rosenfeld
  1. Jack H. Lichy,
  2. Qi Liang

Published Online: 3 MAR 2009

DOI: 10.1002/9781444305500.ch2

Book Title

Sample Preparation for Hyphenated Analytical Techniques

Sample Preparation for Hyphenated Analytical Techniques

Additional Information

How to Cite

Lichy, J. H. and Liang, Q. (2009) Molecular Pathology: Applications of Genomic Analyses to Diagnosis of Genetic Diseases, in Sample Preparation for Hyphenated Analytical Techniques (ed J. M. Rosenfeld), Blackwell Publishing Ltd., Oxford, UK. doi: 10.1002/9781444305500.ch2

Editor Information

  1. Faculty of Health Science, McMaster University, 1200 Main Street W, Hamilton, Ontario, Canada L8N 3Z5

Author Information

  1. Department of Cellular Pathology, Armed Forces Institute of Pathology, 1413 Research Blvd, Bldg 101, Rockville, MD 20850, USA

Publication History

  1. Published Online: 3 MAR 2009
  2. Published Print: 27 SEP 2004

ISBN Information

Print ISBN: 9781405111065

Online ISBN: 9781444305500

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CHAPTER TOOLS

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Keywords:

  • molecular pathology - genomic analyses in diagnosis of genetic diseases;
  • sample preparation for hyphenated analyses;
  • tests performed by molecular diagnostic laboratories;
  • molecular diagnostics - types of assay;
  • clinical utility of test and American College of Medical Genetics (ACMG) publications;
  • isolation of nucleic acids from body fluids and solid tissues;
  • Gentra's two robotic devices – Autopure and Versapure;
  • ELISA type detection systems;
  • more extensive hyphenation of molecular diagnostics assays;
  • programmable robotic liquid handlers

Summary

This chapter contains sections titled:

  • Overview

  • Molecular diagnostics: types of assay offered and clinical examples

  • Methods of molecular pathology

  • More extensive hyphenation of molecular diagnostics assays

  • Conclusion

  • References

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