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- Title
Clinical utility gene card for: Dyskeratosis congenita.
- Authors
Dokal, Inderjeet; Vulliamy, Tom; Mason, Philip; Bessler, Monica
- Abstract
The article offers information on genetic testing for dyskeratosis congenital (DC). It presents a series of questions that should be answered prior to the administration of genetic testing which include the effect of disease management to test result, effect of the test result to lifestyle and prevention, and the effectiveness of the test in resolving genetic situation in the family. It mentions that telomere length measurement can be considered as good screening test for DC.
- Subjects
GENETIC disorder diagnosis; HUMAN chromosome abnormality diagnosis; DISEASE management; MEDICAL screening; TELOMERES
- Publication
European Journal of Human Genetics, 2011, Vol 19, Issue 11, p1
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2011.90