JAK2 Exon 12
Mutation Detection Kit
JAK2 Exon 12 Mutation Detection Kit is a multiplex, ARMS based qualitative PCR assay for the specific detection of Exon 12 mutations in human genomic DNA extracted from EDTA whole blood and bone marrow aspirates. The primers and probe are designed to detect mutations along exon 12 region and a human internal control. The following mutations are covered , N542_E543del, R541_E543delinsK, E543_D544del, F537_K539delinsL, K539L, and H538_K539delinsL
SKU
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100 Rxns: NJMD24452
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50 Rxns: NJMD24452_01
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20 Rxns: NJMD24452_02
Features & Benefits:
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Single-Tube, Multiplex, ARMS based Qualitative Real-Time PCR Assay
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RT-PCR Run Time is within 60 Minutes
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Sample Compatability: DNA Extracted from Whole Blood
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Compatible with Real-Time PCR, instruments like, BIORAD-CFX96, THERMO - QS5, QIAGEN-ROTOR - GENE Q and other instrument which supports FAM (495 nm - 520 nm) and Texas Red (575 nm - 602 nm)
Storage & Precautions
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Recommended Storage: -20°C
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For Professional Use only.
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Read user manual
Clinical Relevance
JAK2 (Janus Kinase 2) is a protein involved in cell signaling pathways critical for blood cell production. Mutations in the JAK2 gene can disrupt these pathways, leading to the uncontrolled growth of myeloid blood cells and potentially causing Myeloproliferative neoplasms (MPNs). The JAK2 gene encodes instructions for making the JAK2 protein. JAK2 is a signaling molecule that activates pathways essential for the growth, differentiation, and survival of blood cells derived from the bone marrow, primarily myeloid cells.
These myeloid cells give rise to red blood cells, white blood cells, and platelets.JAK2 exon 12 mutations can be a diagnostic indicator for certain MPN subtypes, particularly Polycythemia Vera (PV). PV is characterized by an abnormally high number of red blood cells. Individuals with JAK2 exon 12 mutations often present with a specific clinical picture, including isolated erythrocytosis (elevated red blood cell count) and distinctive bone marrow features.
