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.

Expert consultation

Constance A. Griffin, MD, director of both the Pathology Molecular Diagnostics and the Cytogenetics Laboratories, is an oncologist and cancer geneticist with internationally recognized expertise in the cytogenetics of solid tumors.

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.

• Director, Molecular Diagnostics and Cytogenetics Latoratories
• Associate Professor of Pathology, Oncology and Medicine

• M.D., University of Cincinnati College of Medicine
• Residency in Internal Medicine, Indiana University Medical Center
• Fellowship in Medical Oncology, The Johns Hopkins University School of Medicine
• Postdoctoral Fellowship in Cytogenetics, University of Pennsylvania School of Medicine

• Co-Principal Investigator, Mid-Atlantic Cancer Genetics Network, funded by NCI to promote cancer genetics research, education, and clinical services in the Mid-Atlantic region and nationally.
• Diplomate in Clinical Cytogenetics, American Board of Medical Genetics, and in Internal Medicine and Medical Oncology, American Board of Internal Medicine.
• Affiliated Member, The Center for Medical Genetics, Johns Hopkins University School of Medicine
• Member, American Society of Clinical Oncology, American Association for Cancer Research, American Society of Human Genetics, Association for Molecular Pathology

• Associate Director, Molecular Diagnostics Laboratory
• Associate Professor of Pathology and Oncology

• 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

• Diplomate, National Board of Medical Examiners and in Clinical Pathology.

Molecular Diagnostics Laboratory

We provide a multitude of clinical testing for leukemia, lymphoma, solid tumors, colorectal cancer predisposition, and hematologic mutations.

• Leukemia
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.

• Lymphoma
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.

• Specialty tests
APC I1307K -This test identifies the hereditary predisposition for colorectal cancer in the Ashkenazi Jewish population.

To send laboratory specimens Forward specimens by courier or express mail to: Johns Hopkins Medical Laboratories 600 N. Wolfe Street / Meyer B-130 Baltimore, MD 21287-7070 Fax: (410) 614-0455

To send consult slides Forward slides by courier or express mail to: Johns Hopkins Medical Laboratories 1620 McElderry St. Reed Hall Rm 315 Baltimore, MD 21205 Fax: (410) 614-7712 Phone: (410) 955-2405 / 8am - 5pm (To order tests, confer with faculty or handle processing and billing inquires, please call Customer Service at 1-800-997-5475.)