title: Mutation detection, interpretation, and applications in the clinical laboratory setting.
abstract: Mutation detection plays an increasingly significant role in clinical diagnostic testing, posing formidable challenges for laboratories. The expanding indications for clinical molecular testing and the nuances of interpreting test results are discussed. Methods for screening mutation detection platforms and monitoring assay reliability are presented, and results of platform comparisons are described. The potential for irrevocable medical interventions following a positive mutation analysis is highlighted to stress the imperative for accuracy in mutation detection and vigilance in the clinical arena.
authors.affiliation: Genetic Testing Center, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA. Charles.M.Strom@QuestDiagnostics.com
authors.forename: Charles M
authors.initials: CM
authors.lastname: Strom
mesh_terms: D019411:Clinical Laboratory Techniques / Q000592:standards*; D004252:DNA Mutational Analysis / Q000379:methods / Q000592:standards*; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D009154:Mutation; D011786:Quality Control; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity