UW Cytogenetic Services and Molecular Genetics
Cytogenetics involves the study of human chromosomes in health and disease. Chromosome studies are an important laboratory diagnostic procedure in prenatal diagnosis, in certain patients with mental retardation and multiple birth defects, in patients with abnormal sexual development, and in some cases of infertility or multiple miscarriages. Cytogenetic analysis is also useful in the study and treatment of patients with malignancies and hematologic disorders. New techniques allow for increased resolution of chromosome banding patterns, permitting differentiation of a greater number of abnormalities.
In July 2002, Waisman Center Cytogenetics and WSLH Cytogenetics merged to form UW Cytogenetic Services (UWCS). The UWCS laboratory is certified through the Clinical Laboratory Improvement Act (CLIA), the College of American Pathologists (CAP), and is approved by the Childhood Oncology Group (COG). We provide chromosome analysis on a variety of specimens, including amniotic fluid, chorionic villus samples, tissue biopsies, products of conception, peripheral blood, bone marrow, lymph nodes, solid tumors, and pleural effusions. Cytogenetic studies are performed for prenatal diagnosis, to investigate infertility, to aid in identifying the cause of spontaneous abortions, to aid in determining the etiology of congenital anomalies, mental retardation, and learning disabilities, and to identify acquired chromosome abnormalities associated with neoplasia.
News From UW Cytogenetic Services
Clinical Lab Bulletin Summer 2016 
Clinical Lab Bulletin Spring 2016
Karyotyper
Older News and Publications here
Recent Publications:
Centrosome amplification induces high grade features and is prognostic of worse outcomes in breast cancer
Ryan A. Denu, Lauren M. Zasadil, Craig Kanugh, Jennifer Laffin, Beth A. Weaver and Mark E. Burkard BMC Cancer (2016) 16:47.
A multi-center, cross-platform clinical validation study of cancer cytogenomic arrays
Li, Marilyn M., Federico A. Monzon, Jaclyn A. Biegel, Vaidehi Jobanputra, Jennifer J. Laffin, Brynn Levy, Annette Leon et al. Cancer Genetics (2015).
Polyploidy: A new breast cancer subtype and a lead compound that targets it with high selectivity.
Mark E. Burkard, Alka Choudhary, Robert F. Lera, Ross Fedenia, Craig Kanugh, Jennifer J. Laffin, Lauren M. Zasadil, Beth A. Weaver, and Kari B. Wisinski. Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA , Abstract 2526
MECP2 duplication: possible cause of severe phenotype in females.
Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF. Am J Med Genet A. 2014 Apr;164A(4):1029-34.
Clinical Testing
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(See “Catalog and Reference Publications”) Note: Fee schedule provides our list prices. Client bill and contract billing options are available. Please contact the laboratory for additional information. |
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A listing of clinical tests offered, arranged by type of test, including links to test info, request form and other resources
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Forms and Resources
Genetic Diagnosis Request Form 131
Neoplastic Diagnosis Request Form 132
Prenatal Diagnosis Request Form 133
Infectious Disease Request Form 134
Request forms can be ordered by calling the Clinical Orders Department at 800-862-1088 or 608-265-2966.
Clinical Exome Sequencing Forms
International Collaboration for Clinical Genomics (ICCG) Patient Opt-Out Information
Phenotype Form – MicroArray Prenatal
Phenotype Form – MicroArray Postnatal
Parental and Private Variant Testing Information