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JAK-2 Mutation Exon 12



icon JAK-2 Mutation Exon 12


Also Known As: Janus Kinase 2; JAK2 V617F; JAK2 Exon 12 Mutation
Why Get Tested?
To help diagnose bone marrow disorders known as myeloproliferative neoplasms (MPNs) in which the bone marrow produces too many of one or more types of blood cells.
Description:
JAK2 is an intracellular tyrosine kinase and a member of the JAK (Janus Kinase) family. It is involved in the signal transduction pathway of hematopoietic and immune system. The V617F point mutation is one of the most common molecular abnormalities found in exon 14. It is most frequently found in myeloproliferative disorders (MPDs) such as, polycythemia vera (PV), Essential thrombocythemia (ET) or primary myelofibrosis (PMF), and in BCR-ABL negative MPDs. While a minority of patients with JAK2 V617F-negative myeloproliferative disorders a mutation in exon 12 of JAK2 is found.
REASONS FOR REFERRAL
Exon 12
JAK2 V617F- negative MPDs
Sample Requirement: Whole EDTA blood/ Bone marrow
Test Preparation: No test preparation is needed.
Test Done by: 3500Dx Genetic Analyzer (CE, IVD, Applied Biosystems, USA)

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