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Cytogenetic Diagnostics Laboratory

Open Monday-Friday 7am-6pm

The Cytogenetic Diagnostics Laboratory is a full service facility that offers “state-of-the-art” cytogenetic testing to health care providers across the United States. Our tests include chromosome and/or FISH studies from specimens of peripheral blood, bone marrow, amniocytes, chorionic villi, spontaneous miscarriages, solid tumors and histology preparations. 

In addition to providing top quality diagnostic care, the Cytogenetics laboratory has also been an active training site for clinical cytogeneticists. The number of American Board of Medical Genetics certified cytogeneticists who have been trained in the Department of Human Genetics at Virginia Commonwealth University accounts for approximately 10% of the total number of cytogeneticists who have obtained board certification since 1991.

Spectral karyotype of human chromosomesTests Performed

A summary of the specimen requirements for cytogenetic testing is presented in the Molecular Diagnostic Services Section of the Pathology Laboratory Services Catalog.

The turnaround times listed can vary. If you have special needs for more rapid results, please contact Dr. Jackson-Cook.

In addition to standard chromosome analysis techniques, the cytogenetics laboratory offers molecular cytogenetic evaluations using fluorescence in situ hybridization (FISH) methods. The tests performed include (but are not limited to): 

  • FISH to assess many conditions including those for microdeletions; leukemia; solid tumors; and sub-telomeric probes (ToTel Vision). Given its strong history of high quality FISH, VCUHS Cytogenetics lab was selected as one of 42 centers world-wide that participated in the VYSIS clinical trial that led to FDA approval of the AneuVysion probe set.
  • Spectral Karyotyping (SKY) for evaluation of constitutional, prenatal, leukemia, solid tumor and research cell lines. The facility is a referral site for SKY analysis of cases, nation-wide.

Please read Specimen Handling Requirements SWF File
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Specimens accepted for the Cytogenetics Laboratory should be held at room temperature. Appropriate handling of these specimens is dependent upon the date and time the sample was obtained. Therefore, please write the date and time the specimen was collected on the sample container.

Special Instructions

  • Use sterile technique to collect samples
  • Do not refrigerate and do not freeze--all samples should be maintained at room temperature
  • Close screw-top tubes tightly
  • Label all tubes or containers and enclose paperwork.
Dr. Jackson-Cook Laboratory Administration 

Colleen Jackson-Cook, PhD
Director of the Cytogenetic Diagnostics Laboratory
Professor of Pathology
(804) 628-2992;
FAX (804) 828-4242; ccook@mcvh-vcu.edu