Clinical Applications of DNA Probes in the Diagnosis of Genetic Diseases

Currently, advances in molecular technology involving recombinant DNA have led to dramatic breakthroughs in genetic diseases, cancer research, and identification of foreign DNA. Of particular interest is the impact these tools have made and will make on the clinical laboratory. We describe the techniques and their effects on clinical testing in the chemistry laboratory by using selected examples of available applications. Specific examples include carrier detections and prenatal diagnosis in cystic fibrosis and hemophilia, and sickle cell anemia.