The revolution of genetic testing technologies has helped in the advancement of diagnostic tools for genetic diseases, and proved very useful in preventing, managing or treating these diseases. It has been also proven useful in a timely intervention for treating the disease, when it is discovered at early stages of infancy through newborn screening. In addition to providing accurate estimates of the prevalence of genetic diseases, the establishment of molecular genetic testing for a disease has the potential to determine the molecular pathology of the genetic disease in order to improve its prognosis, and guide the development of customized molecular diagnostic approaches against the genetic diseases.