Genetic Testing
- 5 December 2002
- journal article
- review article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 347 (23), 1867-1875
- https://doi.org/10.1056/nejmoa012113
Abstract
Classic genetic tests indicate, either directly or indirectly, the presence of DNA variants associated with rare but highly penetrant disorders such as Huntington's disease or multiple endocrine neoplasia type 2. This article not only reviews these classic tests but also shows how novel genetic tests can reveal the presence of DNA variants that are more logically considered risk factors for a given condition.Keywords
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