TY - CHAP M1 - Book, Section TI - Molecular Diagnostic Testing A1 - Hogge, W. Allen A1 - Rajkovic, Aleksandar PY - 2015 T2 - Practical Genetics for the Ob-Gyn AB - The goal of molecular diagnostic testing is to provide definitive diagnoses for suspected or unknown genetic conditions. A precise diagnosis is important for determining what caused a particular birth defect, for making an accurate cancer diagnosis, for assessing predisposition to adult disorders, or for providing potential therapeutic targets for present and future treatments. There are dozens of molecular-genetic techniques that are currently utilized, all with the common purpose of determining pathologic variations in the primary nucleotide sequence in the affected subject. Clinical molecular testing can be divided into those tests that look at the sequence of a specific single gene, or a more shotgun approach where panels of genes or whole exomes/genomes are sequenced in order to identify the cause of the presenting condition. However, whole exome/genome sequencing provides the individual not only with a diagnosis that explains current symptoms, but also incidental medically actionable health information that may have significant implications for the patient and his/her family. Incidental actionable medical information includes detecting carrier status for a known mendelian disorder, finding susceptibility genes for various cancers, such as BRCA1/BRCA2, or discovering genetic changes that affect response to certain drugs. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - obgyn.mhmedical.com/content.aspx?aid=1115993374 ER -