Overview

The University of Chicago Genetic Services Laboratory offers state-of-the-art DNA diagnostic services under the direction of Soma Das Ph.D. 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 more difficult. The DNA diagnostic laboratory has set up full gene sequencing and other mutation detection 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 works closely with research groups to develop new tests for genetic disorders as their genetic bases become identified.  A primary 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.

CLIA Certification
(Clinical Laboratory Improvement Amendments Certification Program)
Number: 14D0917593
Expiration Date: July, 2012

CAP Accreditation
(College of American Pathologists Accreditation Program)
Number: 18827-49
Expiration Date: October, 2012

Referring physicians will be informed of results as soon as the testing has been completed. Results, along with an interpretive report, will be faxed to the referring physician. Additional reports will be provided as requested. All abnormal results will be reported by telephone.