Genetic diagnosis based on molecular analysis

This article presents the significant advances made in the area of applied molecular genetics in recent years. DNA analysis is now possible for a large number of single gene disorders. The type of testing available for those disorders most commonly dealt with by pediatricians is briefly outlined. Rapid advancement is expected to continue as new techniques are developed and mutations detected. This in turn will lead to extending DNA applications from the family with an affected child to using DNA for population screening of certain disorders.