Our DNA diagnostic laboratory has a focus on offering testing for rare orphan genetic diseases, for which testing is not readily available elsewhere.
A large number of rare orphan genetic diseases are known to exist and the presence of different and usually unique or private mutations in patients and their families makes testing for such disorders more difficult. The University of Chicago Genetic Services Laboratory offers genetic testing for many disease-related genes.
One of the main interest of the laboratory is the translation of research findings into clinically available testing of genetic diseases. We work closely with research groups to develop new tests for genetic disorders as their genetic basis becomes known. Another focus of the laboratory is in the establishment and improvement of the diagnostics of neurodevelopmental disorders.
The DNA diagnostic laboratory also provides a clinical service of mutation confirmation in patients whose mutations have been identified in a research setting, for any gene, and subsequent testing of family members for the particular familial mutation.
We are continually developing new testing options. Please see our website for an up-to-date listing of our available tests:
http://www.dnatesting.uchicago.edu
Check out our blog feed at http://dnatesting.uchicago.edu/blog
