PITFALLS IN THE INTERPRETATION OF MOLECULAR DIAGNOSTIC-TESTS

Application of the tools of molecular genetics has vastly increased th e power of genetic diagnosis, but also raises significant challenges i n interpretation. Molecular tests can be used for diagnosis of an affe cted individual or determination of carrier status. Either direct muta tion analysis or linkage analysis is used in various disorders. Major pitfalls in interpretation of direct tests include mistaking polymorph isms for mutations, inaccurate prognostication based on identification of a mutation, and misinterpretation of the implications of not findi ng a mutation. Interpretation of linkage tests must take account of th e accuracy of proband diagnosis, interpretation of family relationship s, and genetic recombination. Cognizance of these issues is vital to a voidance of clinical errors and must be incorporated into genetic coun seling. (C) 1996 Wiley-Liss, Inc.