Pitfalls in the interpretation of molecular diagnostic tests

Journal of Clinical Laboratory Analysis
B R Korf

Abstract

Application of the tools of molecular genetics has vastly increased the power of genetic diagnosis, but also raises significant challenges in interpretation. Molecular tests can be used for diagnosis of an affected individual or determination of carrier status. Either direct mutation analysis or linkage analysis is used in various disorders. Major pitfalls in interpretation of direct tests include mistaking polymorphisms for mutations, inaccurate prognostication based on identification of a mutation, and misinterpretation of the implications of not finding a mutation. Interpretation of linkage tests must take account of the accuracy of proband diagnosis, interpretation of family relationships, and genetic recombination. Cognizance of these issues is vital to avoidance of clinical errors and must be incorporated into genetic counseling.

References

Jun 1, 1992·Radiology·J A EstroffB R Benacerraf
Oct 5, 1991·Lancet·S Macintyre, A Sooman
Jul 5, 1990·The New England Journal of Medicine·B L Triggs-RaineR A Gravel
Jun 1, 1995·The New England Journal of Medicine·B Korf
Jan 1, 1994·Human Molecular Genetics·J R Sampson, P C Harris
Feb 11, 1995·BMJ : British Medical Journal·Z H MiedzybrodzkaN E Haites
May 1, 1994·Annals of Human Genetics·S PoveyE B Robson
Oct 28, 1993·The New England Journal of Medicine·UNKNOWN Cystic Fibrosis Genotype-Phenotype Consortium
Jun 1, 1993·American Journal of Hematology·M H Steinberg
Mar 1, 1993·Nature Genetics·R Williamson

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Citations

Jul 14, 1998·American Journal of Hematology·K G MonaghanG L Feldman
Mar 13, 1999·Seminars in Oncology Nursing·S Curtas
Jan 23, 2004·The Journal of Molecular Diagnostics : JMD·Shuji Ogino, Robert B Wilson
Jun 24, 2008·Neurocase·F Andrew Kozel, Madhukar H Trivedi
Apr 9, 2011·Current Opinion in Urology·Fernando CarvasHiep T Nguyen
Feb 19, 2002·Clinical Endocrinology·Dimos FlorakisGeorge Piaditis

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