Abstract
The approach for evaluation and diagnosis of endocrine disorders has been moving toward molecular
testing. Molecular research has increased our knowledge of the genetic basis of endocrine disease. Identification of gene mutations, although still limited to
specialized clinics or a research laboratory, is more
accessible and enables the physician to provide accurate management and counseling. We have included
in this chapter a descriptive compilation of molecular
testing that might help the clinician understand the
basis of the most used tests in endocrine pathology.