The Department of Pathology Residency Program -
Cytogenetics

The University of Pittsburgh cytogenetics laboratory is three laboratories in one. First, it is a full service cytogenetics laboratory for UPMC and its affiliates, offering chromosome analysis for patients with birth defects and mental retardation, infertility, multiple miscarriages, gonadal dysgenesis, and X-linked mental retardation (fragile X syndrome). In addition, the laboratory provides tissue culture for prenatal diagnostic services and karyotype analysis of preleukemia, leukemia, lymphoma, and solid cancers.

Second, it is a major cytogenetics referral laboratory for other western Pennsylvania hospitals offering the same broad range of services.

Third, it is a cytogenetics research laboratory active in the cytogenetic analysis of solid tumors and development of diagnostic applications of molecular cytogenetics. The molecular and cytogenetic basis of neoplasia is a major focus of the Pittsburgh Cancer Institute and the Division of Molecular Diagnostics.

Residents are introduced to the computerized methodology of karotyping patient specimens, from leukemias to malignant solid tumors. Residents also review study sets consisting of representative cytogenetic abnormalities as well as participate in sign-out of active specimens.

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