A rack of blood samples in vials

Clinical Laboratory

The University of Chicago Genetic Services Laboratories is a CLIA- and CAP-certified laboratory with a focus on rare genetic diseases for which testing may not be readily available elsewhere. To this end the DNA diagnostic laboratory works closely with research groups to rapidly incorporate innovative technologies into clinical testing and facilitate the transition of research findings to the diagnostic arena. Since our clinical laboratory was established in 1998 our test menu and areas of expertise has expanded to include a wide array of neurodevelopmental and congenital malformation disorders, endocrine disorders such as monogenic forms of diabetes, hereditary forms of cancer, and ataxia.


Computer monitors with scientific results and a microscope

Research and Collaboration

The University of Chicago Genetic Services Laboratories is dedicated to furthering the understanding of rare genetic disorders, through collaboration with experts in the field and other research groups. We perform genotype-phenotype correlation studies, new test and technology studies, mutation spectrum studies, case studies and other types of studies that improve our understanding of the molecular and clinical spectrum of genetic disorders and result in improved diagnostics. We value the importance of making genetic data publically available to help further the understanding of genetic variation and disease, and we are dedicated to sharing our de-identified data through the National Institutes of Health Clinical Genome Resource (ClinGen).

Learn more about research at our laboratory


Clinical Molecular Genetics Fellowship Program

Our laboratory is committed to providing training in laboratory genetics and genomics, and our training program is accredited by the American Board of Medical Genetics and Genomics (ABMGG). The training program benefits from a wide range of clinical and research activities across multiple departments at the University and Medical Center.   

Learn more about our fellowship training program