Cancer Cytogenetics

This service is currently in the process of test validation. Please contact the laboratory at 415-353-4844 for more information.

Hematopathology

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Chronic Myelogenous Leukemia (CML) and Acute Lymphocytic Leukemia (ALL)

This is a test aimed at detecting and monitoring minimal residual disease in CML and ALL. This assay detects and quantitates cells that express the bcr-abl fusion transcripts resulting from either the major (p210) or minor (p190) breakpoints originating from the t(9;22) chromosomal translocation.This is a real-time TaqMan PCR assay, which expresses a patient's results as a bcr-abl to abl ratio. Although this test can be used to diagnose CML and ALL, its best value is to follow bcr-abl/abl ratios in patients undergoing pharmacological therapy.

Inherited

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Breast Cancer: Mutations in two genes, BRCA1 and BRCA2 are the major cause of familial early onset breast cancer. A mutation in either gene confers an 80-90% lifetime risk of breast cancer. Although many mutations have been reported in BRCA1 and BRCA2, three mutations were found in Ashkenazi Jews to have carrier frequencies high enough to warrant a preliminary screen prior to a comprehensive and expensive testing such as DNA sequencing. This assay will detect the 185delAG and 5382insC mutations in BRCA1 and the 6174delT mutation in BRCA2. These 3 mutations have a combined carrier frequency of approximately 1.7% in the Ashkenazi Jewish population.

Solid Tumors

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• ERB-B2 (Her2/NEU)
• Melanoma Chromosome Alterations by Comparative Genomic Hybridization
• Her-2 Neu FISH testing for Breast Cancer
• Urovysion FISH testing for Bladder Cancer
• Comparitive Genomic Hybridization for Melanoma
• FISH testing for 1p19q deletions