Pre-analytics, Current Testing Technologies, and Limitations of Testing

Molecular evaluation of genetic abnormalities requires basic knowledge of genetics and molecular pathology. It also requires basic knowledge of pre-analytic variables that affect these tests and the limitations for each test used to detect these abnormalities. Many limitations of testing start before the tests are even performed. In this chapter, we will review pre-analytical variables affecting the molecular evaluation, the landscape of current testing technologies, and the limitations of testing of some of the most commonly used tests. The aim is to cover the most commonly used tests in clinical practice, and tests not commonly used or mainly used for research are not covered in this chapter.