Cytogenetics and FISH

Regional Pathology Services through its collaborations with The Human Genetics Laboratory and Nebraska Collaborative Laboratory can offer a very comprehensive menu of cytogenetics and Fluorescence in situ hubridization (FISH) testing.  Please contact us at 402-559-6420 to inquire about specific probes.  Below is a list of the most commonly ordered FISH probes:

HER2 MDM2 CDK4 ALK ROS1 PLAG1
FUS DDIT3 ETV6 SS18 COL1A1/PDGFB EWSR1
EWSR1/CREB1 EWSR1/ATF1 NR4A3 1p/19q CIC USP6
FUS/CREB3L2 EWSR1/CREB/3L1 EWSR1/CREB/3L2 FUS/CREB3L1 Reflex HER/D17S122

COL1A1

The Nebraska Collaborative Laboratory (NCL), is a high complexity laboratory performing molecular testing for breast cancer, lung cancer and sarcomas via Fluorescence in situ hybridization (FISH) techniques. Hybridization refers to the binding or annealing of complementary DNA or RNA sequences that serve as probes. With this approach, specific nucleic acid sequences can be detected in morphologically preserved chromosomes or nuclei from fresh, frozen or fixed (paraffin-embedded) tissues. Molecular cytogenetic assays typically are performed with chromosome-specific probes labeled with fluorescent dyes such as fluorescein and detected with fluorescence microscopy. 


FISH testing provides supplemental diagnostic information, based on a patient’s tumor DNA, to determine the most effective course of treatment with the least amount of side effects. “The assessment of gene alterations by molecular approaches, such as FISH, has revolutionized the care of patients with specific types of cancers,” Dr. Bridge said.

“Increasingly, more cancer treatments are becoming available that are based on the genetic alterations or defects that are believed to cause that cancer to grow. To pinpoint ‘targeted therapies’ that interfere with tumor growth and progression, the associated molecular target must first be identified in the patient’s tumor sample.”


This is where the NCL will come into play. For example, the examination for the presence of too many copies of a gene called ERBB2 (HER2) by FISH in the tumor cells of a patient with breast cancer is critical to selecting the appropriate medicine (HER2 targeted therapy) for that patient. “Molecular characterization of many different cancer types by FISH also provides vital diagnostic information that is carefully integrated with traditional pathology for the most precise classification and guidance of treatment recommendations,” Dr. Bridge said.

Nebraska Collaborative Laboratory (NCL) for Fluorescence In situ Hybridization (FISH) Testing