Clinical Cytogenetics | Pathology & Laboratory Medicine

老澳门六合彩图库 Pathology & Laboratory Medicine - Clinical Cytogenetics

Clinical cytogenetics is the study of the structure and function of chromosomes. Cytogenetic testing aids in the diagnosis of heritable genetic abnormalities as well as detecting acquired or somatic genetic abnormalities that are relevant for the diagnosis, prognosis, therapy, and monitoring of many cancer types. Our cytogenetics laboratory offers testing for both constitutional and oncology cases, including chromosome analysis and fluorescence in situ hybridization (FISH) analysis. This includes testing the relevant specimen types for constitutional cases such as chronic villus sampling, amniotic fluid, miscarriage specimens, peripheral blood, and skin fibroblast, as well as cancer specimen types, such as peripheral blood, bone marrow, solid tumors and lymph nodes. We perform FISH analysis using a variety of FISH probes on both fresh and formalin fixed paraffin embedded (FFPE) samples. The medical directors work closely with colleagues in hematopathology, surgical pathology, oncology, genetics, and other specialized testing areas to review and consult on concurrent testing across disciplines.

The medical directors are also involved in medical education, including pathology residents, and fellows in hematopathology, pediatric pathology, hematology and oncology, genetics obstetrics and gynecology, and maternal fetal medicine. We are also involved in teaching genetic counseling students, medical students, and visiting observers. We welcome anyone who is interested in spending time and learning in our cytogenetics laboratory!

We have expanded our service to research efforts on this campus by performing relevant research techniques, such as establishing tissue cultures on specimens, performing cryopreservation for future studies, and conducting cytogenetic analysis for a variety of researchers at 老澳门六合彩图库 and beyond. In this capacity, we serve several investigators at the Children’s Research Institute and the Translational Research facility at 老澳门六合彩图库. Interested researchers can reach out to the clinical cytogenetics faculty with questions.

Clinical Cytogenetics Faculty

Kathleen M. Bone, PhD, DABMGG, FCCMG, FACMG

Associate Professor

Nathan Kopp, PhD

Assistant Professor

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