38. Approaches to Genetic Testing

  1. Clifford J. Rosen MD
  1. Christina Jacobsen,
  2. Yiping Shen and
  3. Ingrid A. Holm

Published Online: 19 JUL 2013

DOI: 10.1002/9781118453926.ch38

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

How to Cite

Jacobsen, C., Shen, Y. and Holm, I. A. (2013) Approaches to Genetic Testing, in Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition (ed C. J. Rosen), John Wiley & Sons, Inc., Ames, USA. doi: 10.1002/9781118453926.ch38

Publication History

  1. Published Online: 19 JUL 2013

ISBN Information

Print ISBN: 9781118453889

Online ISBN: 9781118453926

SEARCH

Keywords:

  • genetic tests;
  • skeletal disorders

Summary

Genetic testing mainly involves looking at an individual's DNA (genes and genome) for variants that may be the underlying cause of a clinical condition. This chapter focuses on genetic testing of DNA. It presents an overview of the types of genetic testing available. The chapter discusses the genetic tests available for bone disorders. It suggests an approach to genetic testing in individuals with bone disorder. The cost of genetic testing can affect the ability to order genetic tests in different settings. The increasing availability of genetic testing for all types of skeletal disorders can be of great benefit to patients and providers. Genetic testing can be useful for diagnosis and subsequent treatment as well as for reproductive counseling for patients and families.