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 intellectual disabilities 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.

Clinical Testing


Enter a portion of the test name: (i.e. cytogenetic, FISH, PCR etc).


A listing of clinical tests offered, arranged by type of test, including links to test info, request form and other resources


Order tests online, view test results and order services such as Molecular Tumor Board

Pre-authorization is required. Please read policy and complete the request form for access.

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News From UW Cytogenetic Services


2019 Spring Updates

  Chromosomal Microarray Analysis (CMA) for Hematological Malignancies


Older News and Publications here


Recent Publications:

Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).

Mikhail FM, Biegel JA, Cooley LD, Dubuc AM, Hirsch B, Horner VL, Newman S, Shao L, Wolff DJ, Raca G.    Genet Med. 2019 May 29 PMID:31138931


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.



Fellowships and Case Conference


Karyotyper iconKaryotyper

Chromosomal Abnormalities in Cancer

– a listing of neoplastic disorders including examples of associated chromosomal abnormalities


Forms and Resources

Genetic Diagnosis Request Form 131 icon-pdf

Neoplastic Diagnosis Request Form 132 icon-pdf

Request forms can be ordered by calling the Clinical Orders Department at  800-862-1088 or 608-262-0402.

Clinical Exome Sequencing Forms 

DNA Banking Policy and Deposit Form icon-pdf

DNA Banking Specimen Release Form icon-pdf

DNA Banking Transfer of Ownership Form icon-pdf

Blood Shipper Kit Information icon-pdf

International Collaboration for Clinical Genomics (ICCG) Patient Opt-Out Information icon-pdf

Phenotype Form – MicroArray Prenatal icon-pdf

Phenotype Form – MicroArray Postnatal icon-pdf

Parental and Private Variant Testing Information 

Postmortem Sample Short-term Storage Form 



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