Molecular and Genomic Diagnostic Laboratories

Question 1

What is genomic and molecular testing?

Answer

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.

Question 2

How does genomic and molecular testing work?

Answer

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.

Question 3

How do I order a test?

Answer

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

Question 4

How do i get a second opinion?

Answer

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).

Question 5

How do I collaborate with your team on a research project?

Answer

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.

Molecular and Genomic Diagnostic Laboratories

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

Pathology Molecular Diagnostics

Genetic Testing for Inherited Diseases

Cancer Cytogenetic Testing

Constitutional Cytogenetic Testing

Our Team

Research

Contact Our Labs

Frequently Asked Questions

What is genomic and molecular testing?

How does genomic and molecular testing work?

How do I order a test?

How do i get a second opinion?

How do I collaborate with your team on a research project?