Clinical Cancer Cytogenetics Laboratory

The Clinical Cancer Cytogenetics Laboratory at Penn Medicine provides genetic testing for chromosome abnormalities associated with cancer. The lab performs conventional chromosome analysis and fluorescence in situ hybridization (FISH) on neoplastic samples. Specimens routinely evaluated include bone marrow, peripheral blood, and lymph nodes. The laboratory also performs FISH testing on paraffin-embedded tissues. 

The Cancer Cytogenetics Laboratory dates back to the 1950s, when Dr. Peter Nowell discovered a specific abnormal chromosome, later named the Philadelphia Chromosome, in patients with a specific leukemia, Chronic Myeloid Leukemia (CML). This discovery provided the first evidence that specific and recurrent genetic abnormalities (e.g. the BCR::ABL1 rearrangement) are associated with cancer and can serve as targets for new therapeutics.