1. Clinical Chemistry: Theory, Analysis, Correlation, 3rd Edition
Kaplan, L.A. and Pesce, A.J. eds.
Chapter 48: “Molecular Biology in the Clinical Laboratory”
by Highsmith, Stoerker and Silverman

2. Human Molecular Genetics, 2nd Edition
Strachan, T. and Read, A.P. eds.

3. Molecular Diagnostics: A Training and Study Guide
Gregory J. Tsongalis and William B. Coleman

4. Recombinant DNA, 2nd Edition
Watson, J.D. et al
Chapter 27: “DNA-Based Diagnosis of Genetic Diseases”

5. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 4th Edition
Burtis CA, Ashwood ER, Bruns DE, eds.
(relevant chapters)