Oncology Diagnostic Services

UroVysion is a fluorescence in situ hybridization (FISH) based molecular cytogenetic test that detects aneuploidy of chromosomes 3, 7 and 17 and the deletion of the 9p21 locus in carcinoma cells present in urine specimens.  This test is used to diagnose bladder cancer in patients with hematuria (adjunct to ThinPrep-based urine cytology) and to monitor bladder cancer recurrence.

The identification of HER-2 over expression by immunohistochemistry in conjunction with gene amplification detected by FISH is associated with a comprehensive positive response to the humanized, monoclonal antibody Herceptin® in patients that have failed standard chemotherapy treatment.  The detection of HER-2 gene amplification by FISH analysis is linked with rapid cancer cell proliferation, decreased disease-free survival and poor overall survival in both node-negative and node-positive ductal breast cancers.  In patients with advanced breast carcinoma, HER-2 amplification predicts responsiveness to transtuzumab (Herceptin®) therapy and poor response to standard chemotherapy.

Cytogenetic analysis of peripheral blood (if 10% or more blasts present) can identify numerical and structural chromosomal aberrations that are diagnostic and/or prognostic for some types of leukemia and lymphoma.  Chromosome analysis is often employed for staging, monitoring treatment and predicting relapse.  Leukemias and lymphomas can be distinguished by specific chromosome abnormalities which can aid in precise diagnosis, disease etiology, patient prognosis and disease management.

Since bone marrow is composed of actively dividing cells, and is usually the source of lymphomas and leukemic cells, it is more often the specimen of choice for analysis.  Cytogenetic analysis of bone marrow can identify acquired chromosome abnormalities that are diagnostic and/or prognostic for some types of leukemia and lymphoma.  Chromosome analysis is often employed for staging, monitoring treatment and predicting relapse.  Leukemias and lymphomas can be distinguished by specific chromosome abnormalities which can aid in precise diagnosis, disease etiology, patient prognosis and disease management.

Many solid tumors, especially soft tissue sarcomas, have precise structural chromosomal abnormalities that are important for precise diagnosis.  Cancer cytogenetic studies can identify numerical and structural chromosomal abnormalities that are diagnostic and/or prognostic for various types of solid tumors.

When a submicroscopic gain or loss of chromosomal material is suspected and is beyond the resolution of routine chromosome analysis, CGH microarray should be considered as adjunct testing.

Leukemias, lymphomas, other hematopoietic malignancies and various types of solid tumors can frequently be distinguished by specific chromosomal and genetic abnormalities. Interphase FISH does not require cell division. Interphase FISH analysis can be used to identify those specific abnormalities/translocations that are more commonly observed in certain types of cancers. Chromosome analysis must be ordered in conjunction with or prior to FISH testing.
FISH studies are employed to establish the presence of a known or suspected abnormality. This is particularly useful when there are a small number of cells or no dividing cells in the sample for cytogenetic analysis.

New probes/FISH tests are frequently added to the testing menu. Please contact Client Services if the test you require is not included in the list.