Chapter 10 – Genetic Testing and Counseling

Over the past several decades, genetic testing and counseling have become increasingly complex and challenging. As knowledge about genetic disorders, including genetic disorder of bone, has expanded greatly over the past few years, the number of disorders for which genetic testing is commercially available has increased. The explosion in the number of tests available, and the introduction of new types of genetic tests being performed, has made counseling patients undergoing this testing more complex and challenging. In this chapter, we will discuss the types of genetic testing available, suggest an approach to genetic testing in individuals with a disorder of bone, and provide an overview of genetic counseling for individuals with a presumed genetic diagnosis and those undergoing genetic testing.