Molecular and Genomic Diagnostic Laboratories

Stylized DNA helix

Our laboratories offer nationally recognized expertise in cytogenetics and molecular testing combined with personalized service to clinicians

The University of Chicago Medicine Molecular and Genomic Diagnostic Laboratories are highly regarded by physicians and researchers across the country for their accuracy, efficiency and service. Our clinical genomics experts possess a diverse range of knowledge and use the latest tools and methods to diagnose disease, guide treatment options and support research projects.

Whether you want to order fluorescent in situ hybridization (FISH) testing to uncover a patient’s congenital anomaly or require next-generation sequencing to support precision medicine for cancer, our team will analyze your samples with great skill and care.

Our affiliation with one of the country’s leading research hospitals means that our multidisciplinary team is especially equipped to handle your most complex testing needs.

stylized chromosome with helix in background
Pathology Molecular Diagnostics

Uncovering mutations associated with leukemia, lymphoma, melanoma, colon cancer and other cancers.

stylized genetic testing schematic
Genetic Testing for Inherited Diseases

Expertise in diagnosing inherited hematologic malignancies, endocrine disorders, ataxias and other inherited conditions.

karotype on computer screen
Cancer Cytogenetic Testing

Cytogenetics and cytogenomics to understand leukemias, lymphomas and solid tumors.

karotype
Constitutional Cytogenetic Testing

Providing insights on autism, congenital anomalies, developmental delays and pregnancy loss.

Peter Pytel, MD, at microscope
Our Team

Meet our laboratory faculty.

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Research

Interested in a research collaboration? We're here to help.

Frequently Asked Questions

Genomic and molecular testing involves the use of cytogenetic and molecular biology approaches to support the diagnosis and management of patients with cancer, inherited and infectious diseases and more. This field has grown exponentially over the past decade with the introduction of next-generation sequencing and advanced bioinformatics tools, which allow us to study vast areas of the human genome and use that information to guide the care of our patients in real time. 

The best hope for treatment of many illnesses depends on having the best possible information on patients and their conditions. Using genomic and molecular tests, clinicians can provide patients with a much clearer picture of their disease and their treatment options.
We have many different tools available to us within the UChicago Medicine Molecular and Genomic Diagnostic Laboratories, all focused on analyzing the genetic information in samples collected from our patients. Our cytogenetics laboratories analyze a patient’s chromosomes on a macro-scale to look for clinically relevant, visible changes. At intermediate scales, we have tools such as fluorescence in situ hybridization (FISH) and genomic microarray technologies that can reveal microscopic genomic anomalies. At the highest resolution, our next-generation sequencing (NGS) technologies allow us to view our patient’s DNA and RNA in many different ways and to visualize some of the smallest or largest alterations that can render a diagnosis or provide personalized treatment options.

For example, next-generation sequencing may be used to study the sequence of all the genes in the genome from a patient at once, or it may be used to study one particular location in the genome in great depth to find ultra-rare mutations associated with residual minimal disease in a leukemia patient after treatment. Likewise, cytogenetics permits an evaluation of all chromosomes in a short amount of time to aid in the classification of leukemia or diagnosis of a congenital disorder. The versatility of our combined approaches and the power that next-generation sequencing provides has truly revolutionized our ability to perform personalized genomic medicine at the University of Chicago Medicine.

Instructions on submitting samples and related forms are available via the links below:

When you need a second opinion on a challenging case, we are here to help. Please contact us at 1-833-UCM-LABS (1-833-826-5227).
We welcome collaborations with research groups on studies to improve our understanding of a wide variety of diseases. More information is available on our research page.