Molecular testing for inherited diseases

Abstract

Technological advances in molecular biology, coupled with the Human Genome Project, has led to the isolation and characterization of thousands of human genes. Subsequently, many of these discoveries have been promptly translated into clinical assays by DNA laboratories for immediate patient evaluation and management. Since a variety of mutation detection techniques exist, the technique most appropriate for clinical testing of a particular disease is determined by: both the type and number of different mutations associated with the disease; the frequency of referrals; and the required turn-around time for appropriate patient management. This review discusses some of the more commonly inherited diseases for which molecular testing is available. It describes and illustrates the techniques used for direct mutation analysis of expanded trinucleotide repeats, point mutations, deletions, gene rearrangements, uniparental disomy, and linkage analysis.