Molecular testing for inherited diseases

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