Cytogenetics Laboratory

Cytogenetics is the study of chromosome structure, pathology, function and behavior as it relates to genetic disease.

The University of Chicago cytogenetics and cytogenomics laboratory is a full service facility providing a comprehensive menu of testing to diagnose chromosomal abnormalities that are present at birth and developed as part of disease. We offer testing for many indications and sample types including peripheral blood, amniotic fluid, chorionic villus sampling, products of conception, skin biopsies, solid tumors and leukemias.

As one of the most notable academic cytogenetics laboratories, our commitment to innovation and discovery has made us a leader in the field. Our board-certified laboratory directors work closely with physicians, genetic counselors and hospital staff to provide the most appropriate and reliable results that are both time and cost effective. 

Constitutional Cytogenetics

In the Constitutional Cytogenetics and Cytogenomics laboratory, we focus our diagnostic services and research on genetic abnormalities that are present at birth. We provide prenatal and postnatal screening and diagnosis of chromosomal abnormalities seen in patients with congenital anomalies, intellectual and neurodevelopmental disorders, infertility and reproductive disorders.

Cancer Cytogenetics

The Cancer Cytogenetics Laboratory specializes in the analysis of chromosome patterns in blood diseases as well as cytogenetic and cytogenomic testing of solid tumors, leukemias and lymphomas. Cytogenetics remains a critical component in the diagnosis, prognosis, disease monitoring and treatment selection for many neoplastic disorders.

For more information about cytogenetics, visit the UC MedLabs website.