Molecular Pathology: Molecular Diagnostics and Cytogenetics Laboratory
The Pathology Molecular Diagnostics Laboratory offers state-of-the-art clinical molecular testing for leukemia, lymphoma, solid tumors, cancer predisposition and a number of hematologic mutations associated with disease. Our tests are based on the latest research-based knowledge and provide initial diagnostic information, detection of residual disease following therapy, and assessment of disease risk for inherited conditions. The pathology Cytogenetics Laboratory offers the most advanced clinical cytogenetics testing available for leukemia, lymphoma and solid tumors. Our tests provide initial diagnostic information and minimal risidual disease detection following therapy or transplant. Expert results, interpretation and consultation services from these laboratories aid referring physicians, including oncologists, hematologists, pathologists, obstetricians and geneticists, in the appropriate diagnosis and management of their patients.
Founded in 1986, the laboratory has more than a decade of experience in the field of molecular diagnostics of cancer. We perform more than 1,000 tests a year on DNA and RNA extracted from a variety of specimen types, including peripheral blood, bone marrow, lymph nodes, amniotic fluid and formalin-fixed paraffin-embedded tissue. Our tests range from simple, routine PCR amplifications to cutting-edge research findings, where we have experience in transferring new diagnostic assays from the research bench to the clinical laboratory and in using these tests appropriately.
Also founded in 1986, the Cytogenetics Laboratory performs more than 600 tests annually on peripheral blood, bone marrow, lymph nodes and solid tumors. Our tests include both classical cytogenetics and in situ hybridization. In 1998, we began offering multicolor FISH using the ASI Spectral Karyotyping Imaging System.
Many years of close interaction with our referring physicians have provided experience in understanding the diagnostic complexities and practical implications associated with the testing available in these laboratories. We are pleased to share this experience to determine the most efficient and cost-effective tests for your patients.
Dr. James Eshleman, associate director of the Molecular Diagnostics Laboratory, is a board-certified clinical pathologist with extensive experience in the areas of molecular biology of colorectal carcinogenesis and microsatellite instability. Assistant director Dr. Lynne Rosenblum-Vos is a medical geneticist with expertise in molecular genetics and cytogenetics.
Special capabilities and services
The Pathology Molecular Diagnostics Laboratory at Hopkins is the first clinical diagnostic laboratory in the world to offer the APC I1307K test to identify hereditary predisposition for colorectal cancer in the Ashkenazi Jewish population.
The Pathology Cytogenetics Laboratory is one of the first clinical diagnostic laboratories in the world to own a Spectral Karyotyping Imaging System, which enhances our ability to analyze complex karyotypes often found in tumors.
Both laboratories work closely with the Flow Cytometry Laboratory and the bone marrow transplantation program at The Johns Hopkins Oncology Center.
Turnaround time for testing depends on the test requested. The Molecular Diagnostics Laboratory can usually provide results for simple PCR testing in three to five days after receiving a sample and in less than two weeks for more complex analyses.
Results from the Cytogenetics Laboratory can generally be supplied in three to five days after we receive samples for in situ and in less than two weeks for metaphase cytogenetics.
James R. Eshleman, M.D., Ph.D.
- Associate Director, Molecular Diagnostics Laboratory
- Associate Professor of Pathology and Oncology
Education and Training
- M.D., Ph.D., Anatomy and Structural Biology, University of Pennsylvania School of Medicine
- Residency, Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania
- Fellowship, Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania
Clinical interests include molecular diagnosis, transfusion medicine, residency training
Research interests include colon cancer genetics, genetic instability and mutation analysis, molecular diagnosis of cancer
Among the leaders in using mutational analysis of genes involved in hereditary non-polyposis colon cancer
Published numerous articles detailing the inportance of these genetic findings.
Major Professional Leadership
Diplomate, National Board of Medical Examiners and in Clinical Pathology
To order, call Customer Service at 1-800-997-5475 between 8:00 a.m. and 11:00 p.m.
Molecular Diagnostics Laboratory
We provide a multitude of clinical testing for leukemia, lymphoma, solid tumors, colorectal cancer predisposition, and hematologic mutations.
RFLP - This test is performed on bone marrow transplant (BMT) patients and their donors before BMT to identify an informative probe, and then after BMT on the patient to monitor the status of the graft.
IgH PCR - This test identifies B-cell clonality in leukemia and lymphoma.
TCR-Gamma PCR - This test identifies T-cell clonality in leukemia and lymphoma.
BCR-ABL RT-PCR - This test identifies the t(9:22) BCR/abl gene translocation (Philadelphia chromosome) present in more than 99% of CML and frequently in all.
BCL2/IgH PCR - This test identifies the t(14:18) BCL2/IgH gene translocation (major and minor breakpoint regions) seen in follicular lymphoma and large cell lymphoma.
APC I1307K -This test identifies the hereditary predisposition for colorectal cancer in the Ashkenazi Jewish population.
Special Ordering InstructionsTo send consult slides
Forward slides by courier or express mail to:
Johns Hopkins Medical Laboratories
1620 McElderry Street
Reed Hall Rm 315
Baltimore, MD 21205
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