Diagnosis of systemic mastocytosis (KIT gene mutation D816V)

Mastocytosis is a heterogeneous group of diseases characterized by pathological local or diffuse proliferation and accumulation of clonal (neoplastic) mast cells (mastocytes) in the skin and/or other organs (bone marrow, liver, spleen, lymph nodes). The D816V point mutation in exon 17 of the c-KIT gene is detected in more than 90% of adults with mastocytosis and in 40% of children; other mutations are detected less frequently. Detection of mutations in the c-KIT gene determines the treatment strategy (targeted therapy).

Within 9 days. The specified time does not include the day of biomaterial collection