IVD JAK2 Break

Janus Kinase 2 (JAK2) is a tyrosine kinase involved in cytokine signaling. Mutations and translocations involving the JAK2 gene region are observed in myeloproliferative neoplasms. The common JAK2617V>F point mutation and translocations results in constitutive activation of JAK2. Translocations are described with the following fusion partners: PCM1, BCR, ETV6 (TEL), SSBP2 and 3q21. Patients with the JAK2617V>F point mutation can also exhibit a numerical gain of the gene. The JAK2 (9p24) Break FISH probe is optimized to detect translocations involving the JAK2 gene region at region 9p24 in a dual-color, split assay on metaphase/interphase spreads. The JAK2 (9p24) Break FISH probe can not be used to detect point mutations, and it has not been optimized to detect gene amplifications.

References:
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