Clinical Services


The Department of Human Genetics offers comprehensive clinical services for the diagnosis and management of genetic disorders, in addition to state-of-the-art laboratory diagnostics.

Two medical geneticists and three genetic counselors participate in pediatric and general genetics, neurogenetics, and craniofacial clinics, as well as provide consultation services. Areas of specialization and research interests include evaluation and counseling for brain malformations, metabolic conditions, and mental retardation of unknown origin.

Our cytogenetics laboratory offers routine chromosome analysis and FISH analysis for prenatal diagnosis, as well as congenital and reproductive disorders. Cancer cytogenetic services are available through the Department of Medicine, Section of Hematology and Oncology.

The molecular genetics laboratory provides DNA analysis for a variety of conditions affecting adults and children, as well as prenatal diagnosis. Molecular genetic assays for infectious diseases and somatic abnormalities associated with cancers are available through our Department of Pathology.

Specialty services offered in our laboratories include testing for telomere rearrangements, imprinting disorders, brain malformations, and customized diagnostics for families affected with rare, or “orphan,” diseases.

The clinical genetics laboratories are CLIA-certified and CAP-accredited, and will facilitate genetic research for University of Chicago faculty by providing core services (cell culture, DNA isolation, sequencing and genotyping, and patient specimen storage) in a quality-controlled setting.

Our clinical and laboratory genetics staff also contribute to the prenatal and cancer risk clinics that are provided through the obstetrics & gynecology and medicine departments, respectively.