The University of Chicago Genetic Services Laboratories offer state-of the-art DNA diagnostic and molecular cytogenetic services under the direction of Soma Das Ph.D. and Stuart Schwartz Ph.D. Both the DNA diagnostic and molecular cytogenetic laboratories provide customized genetic studies on a collaborative and/or fee-for-service basis.
The DNA diagnostic laboratory has a focus on testing of 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 difficult. The DNA diagnostic laboratory has set up full gene sequencing or other mutation scanning methods for several disease-related genes. A main interest of the laboratory is in the translation of research findings into clinically available testing of genetic diseases. To this end, the DNA diagnostic laboratory offers 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.
The cytogenetic clinical laboratory has a strong interest in delineation of chromosome structure and resultant phenotype/karyotype correlation. In particular, FISH with single copy BACs can be used to determine the extent of deletions and duplications, as well as to delineate de novo translocations and marker chromosomes. |