Advances in genetic testing have the potential to revolutionize how physicians diagnose and treat patients. Currently there are more than 2,000 genetic tests available to physicians to aid in diagnosis and therapy for more than 1,000 different diseases. For what reasons is gene testing generally performed?

Gene testing is generally performed for the following reasons: conformational diagnosis for a symptomatic individual; presymptomatic testing for estimating risk of developing disease; presymptomatic testing for predicting disease; prenatal diagnosis screening; newborn screening; preimplantation genetic diagnosis; carrier screening; forensic screening; and paternal testing.