HYPEREOSINOPHILIC SYNDROME – Targeted sequencing of the JAK2 gene
Delivery time
45750
Sample
Blood
The study of Hypereosinophilic Syndrome analyzes specific mutations in exons 12 (p.K539L) and 14 (p.V617F, p.K607N) of the JAK2 gene using targeted sequencing. This syndrome is characterized by a persistent proliferation of eosinophils in peripheral blood and tissues, which can cause damage to organs such as the heart, skin, lungs, and nervous system. Variants of the JAK2 gene alter the signaling of the JAK/STAT pathway, leading to constitutive activation and clonal expansion of myeloid precursors. The detection of these mutations is diagnostically relevant in differentiating between reactive and neoplastic forms of hypereosinophilia and can guide treatment with specific tyrosine kinase inhibitors.
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