DiaCarta's QClamp® JAK2 Codon Specific Mutation Detection kit is a polymerase chain reaction (PCR)-based assay that uses XNA probes to suppress amplification of WT-DNA, selectively amplifying mutant DNAs

The testing procedure involves four (4) simple steps:1. Isolation of DNA from tumor biopsies, paraffin-embedded sections (FFPE), fresh frozen tumors, or tumor cell lines. 2. Amplification of mutant all DNAs at specified codons within the KRAS gene. 3. Detection of amplification signal using a real-time PCR instrument capable of SYBR green detection 4. Documentation and interpretation of results.

This test can be completed in approximately 2-3 hours from DNA to test result. Limit of Detection <0.1% RUO, <1% CE-IVD. Includes WT and Positive Controls. 2 reactions per sample. Minimal sample input (5-10ng per reaction)

The JAK family of non-receptor tyrosine kinases, includes JAK1, JAK2, JAK3, and TYK2. Janus kinase 2 (JAK2) is an intracellular tyrosine kinase that associates with the cytoplasmic domains of multiple cytokine receptors. Ligand binding by the receptor results in conformational changes that activate JAK2, resulting in phosphorylation of target proteins, including STATs and JAK2 itself. The JAK-STAT signal transduction pathway regulates cell proliferation, differentiation, apoptosis and immune regulation.

Activation of JAK2 by mutation of the amino acid at position 617 (V617F) is associated with myeloproliferative disorders, including polycythemia vera (mutations found in 90% of cases), essential thrombocythemia (50%) and idiopathic myelofibrosis (50%). This mutation leads to deregulation of the kinase activity, and thus to constitutive tyrosine phosphorylation activity. The V617F mutation seems to occur exclusively in hematopoietic malignancies of the myeloid lineage.

The assay identifies the presence of all mutations in and near JAK2 Codon V617. All mutations at a particular codon are detected, but the exact nature of the mutation is not specified.