Human Genetics, Counseling & Diagnostics

Our genetics team offers comprehensive clinical services for the diagnosis and management of genetic disorders, in addition to state-of-the-art laboratory diagnostics.

Our medical geneticists and genetic counselors participate in pediatric and general genetics, neurogenetics and craniofacial clinics, as well as provide consultation services.

We research and specialize in:

  • Evaluation and counseling for brain malformations
  • Metabolic conditions
  • Developmental disabilities of unknown origin

Our cytogenetics laboratory offers routine chromosome analysis and fluorescence in situ hybridization (FISH) analysis for prenatal diagnosis, as well as congenital and reproductive disorders. Cancer cytogenetic services are also available. 

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

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, 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 and gynecology and medicine departments, respectively.