UW Cytogenetic and Molecular Genetic Services


The UW Cytogenetic and Molecular Genetic Services Laboratory is housed within the Wisconsin State Laboratory of Hygiene centrally located in the heart of the University of Wisconsin – Madison campus. Our lab is a clinical diagnostic laboratory providing comprehensive cytogenetic, cytogenomic and molecular genetic testing services for both constitutional (germline) and acquired (somatic) conditions. Our laboratory is certified through the Clinical Laboratory Improvement Act (CLIA), the College of American Pathologists (CAP), and is an active participant of the NCI-sponsored Children’s Oncology Group (COG).


Cytogenetic and Cytogenomic Testing Services

Our lab operates as a full-service cytogenetic testing laboratory, implementing conventional cytogenetic (G-banded chromosome analysis and FISH) and modern cytogenomic (whole genome chromosomal microarray) testing approaches to diagnostics. We provide testing for a range of specimen types including prenatal (amniotic fluid, chorionic villus sampling, products of conception), postnatal (peripheral blood, tissue biopsy), and hematological/oncological (bone marrow, lymph node, solid tumor, FFPE tissue) specimens, among others.

Please refer to our comprehensive testing menu below for more details. See forms below.


Molecular Genetic Testing Services          

Our lab is excited to offer whole exome sequencing services, in addition to targeted molecular genetic testing for a variety of inherited and acquired conditions. Our lab also offers commissioned sequencing services. Our skilled molecular geneticists can work with your team to design customized single and multi-gene Sanger or next-generation sequencing panels, as well as provide variant interpretation.

Please refer to our comprehensive testing menu below for more details. See forms below.

To speak to a lab representative regarding custom sequencing services, please call (608) 262-0402


Education and Research Initiatives

Our lab, like the whole of the University of Wisconsin System, embraces the Wisconsin Idea, a philosophy whereby university research should be applied to solve problems and to improve the health and quality of life for all Wisconsin citizens. As such, our team is always interested in and looking for opportunities to collaborate with UW investigators (and beyond) to drive forward research initiatives and to contribute our genetics knowledge to the greater community.

To learn more about our lab’s educational offerings, please see our Education Section below.

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.

Provided by Psyche Systems [Internet Explorer 6 through 9, as well as most versions of Mozilla Firefox, are supported.]

News From UW Cytogenetic Services


2022 Spring Clinical Lab Bulletin

2021 Summer Clinical Lab Bulletin 

New BCR-ABL1 Quantitative Assay Announcement

2020 Fall Clinical Lab Bulletin

2020 Summer Update

  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 

Products of Conception (POC) Testing Information Sheet

Variant Reanalysis Request Form

Postmortem Testing Forms and Consent

Exome Reanalysis Request Form



Back to top