Our Molecular Diagnostics Laboratory is part of the Genomic and Molecular Pathology Division at the University of Chicago Medicine. We analyze DNA and RNA to make diagnoses, help select therapy, and monitor disease status in several broad areas. We identify infectious diseases by DNA sequencing of organisms that elude standard microbial identification techniques.

Molecular diagnostics is used in hematology for the detection of leukemia/lymphoma-associated mutations for diagnosis, the monitoring of minimal residual disease (by quantitative monitoring of mutations), and the monitoring of bone marrow transplantation through the measurement of donor and recipient genotypes in blood and bone marrow. The Molecular Diagnostics Laboratory also tests for a variety of mutations in colon cancer, lung cancer, and melanoma. Some, like microsatellite instability in colon cancer and endometrial cancer, suggest familial cancer syndromes and can have an impact on prognosis. Others, like EGFR and K-RAS mutations, are critical to determinations about very expensive ($50,000–$100,000) therapies.

With the advent of relatively inexpensive high throughput sequencing of DNA and RNA, it is reasonable to anticipate a dramatic increase in worthwhile targets to test in leukemia, lymphoma, and solid tumors in the coming decade. Our lab’s director is trained in surgical and clinical pathology and molecular biology, having earlier discovered several genes, and continues to collaborate in the study of the molecular biology of colon cancer.