Clinical Genetic Testing Options

Genetic testing is becoming increasingly commonplace in the clinical setting, in large part due to significant advances in testing technologies combined with reductions in cost. An increase in the number of available testing options warrants an understanding of the basic strengths and limitations of those presently offered. In pediatric endocrinology practice, the use of molecular, cytogenic, and sequencing platforms are characterized by unique applications and limitations. This chapter aims to review the scope and basic technical methodologies presently available and describe relevant clinical use.