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

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