Carrier detection in Duchenne muscular dystrophy: A review of current issues and approaches

摘要: The clinical chemistry laboratory has traditionally played a passive role in the application of technology to diagnostic interpretation. Recent developments offer laboratorian renewed potential enter patient care arena as consultant. Our lack understanding disease processes muscular dystrophies places emphasis on prevention through carrier detection. This review summarizes progress disease, our present genetics that control mode inheritance and analytical approaches detection, including their advantages limitations. advances allow examination genetic material itself instead concentrating phenotypic expression biochemical abnormalities.