Jak2 Mutation Detection With Sanger Sequencing
Janus Kinase 2 (JAK2) gene is responsible for production of JAK2 protein in cells. JAK2 tyrosine kinase protein is a specific protein of cytokine receptor signalling pathway. This receptor functionally interacts with prolactin receptor and is required for gamma interferon responses. JAK2 protein is involved in cell growth and it is especially important for the control of blood cell production in bone marrow.
This test allows for detection of bone marrow deficiencies. JAK2 related bone marrow deficiencies are known as Myeloproliferative Neoplasms (MPNs) which are characterized as excessive production of white blood cells, red blood cells and/or thrombocites in the bone marrow.