ETV6 (12p13) Orange FISH Probe is intended to hybridize to the 12p13.2 probe region on chromosome 12. The clinical interpretation of any positive or negative hybridization events should be complemented by the use of appropriate controls and other diagnostic tests where appropriate. Evaluation should be carried out within the context of the patient’s clinical history by a qualified pathologist.
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The ETV6 gene enocodes a N-terminal pointed domain (PNT) resulting in protein-protein interactions as well as a C-terminal domain facilitating DNA binding. ETV6 translocations can result in the ETV6/RUNX1 fusion, a well documented event in the pathogenesis of acute lymphoblastic leukemia (ALL)1. The detection of these mutations can provide clinical insight for ALL treatment.2