TY - CHAP M1 - Book, Section TI - Introduction to Molecular Testing Including Exome/Genome Sequencing A1 - Grebe, Stefan A1 - Calhoun, Amy R.U.L. A2 - Sarafoglou, Kyriakie A2 - Hoffmann, Georg F. A2 - Roth, Karl S. PY - 2017 T2 - Pediatric Endocrinology and Inborn Errors of Metabolism, 2e AB - Molecular genetic testing is a key tool in the evaluation of patients with metabolic and endocrine diseases. The three most serious issues that must be considered prior to undertaking diagnostic molecular testing are: 1) selection of the most appropriate test; 2) correct interpretation of test results; and 3) cost, stewardship, and appropriate utilization of medical resources. Selection of the most appropriate test is key because doing this mitigates the other two concerns. The physician selecting the test must understand the sensitivity and specificity of the selected test in the context of the patient’s findings. Molecular test results are complex and require significant expertise to interpret. A provider should not order a test if he or she is not prepared to deal with all possible results including indeterminate or novel results. Furthermore, although the cost of molecular testing is rapidly decreasing, it remains expensive, and ordering the wrong test or being unable to interpret test results will lead to waste of healthcare resources. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1140314516 ER -