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.
