Diagnosis of mastocytosis
Mastocytosis is a group of diseases that cause excessive accumulation of mast cells – mast cells in tissues. Mast cells are involved in the body's immune response, after contact with the allergen – they secrete inflammatory mediators, e.g. histamine, which causes a local or systemic inflammatory reaction.
Most cases of mastocytosis are sporadic, associated with the occurrence of a somatic mutation of the KIT oncogene. The most common aberration in about 90% of patients is a mutation in codon 816 (KIT D816V) The detection of this change confirms the diagnosis of mastacytosis.
Two forms of mastocytosis are distinguished:
- Cutaneous
- Systemic
Early diagnosis of mastocytosis enables proper treatment..
The test material should be collected using the sent PAXgene DNA blood CE IVD whole blood kit.
The collected material should be sent to the laboratory.
THE MATERIAL CAN BE STORED AT ROOM TEMPERATURE WITHOUT AFFECTING ITS QUALITY FOR UP TO 14 DAYS.
For more information:
Recommendations of the Polish Society of Clinical Oncology
Diagnostic and therapeutic recommendations of the Polish Dermatological Society
260.00 zł
Why is it worth testing?
Purpose of the test
The p.D816V mutation in the KIT gene KIT causes resistance to treatment with Imatinib because it pathologically activates the KIT protein.
Indications for performing the test
Diagnosis of mastocytosis.
Still in doubt? Any questions?
We encourage you to contact us to resolve any doubts!
Napisz do nas, korzystając w formularza lub umów bezpłatną wstępną konsultacje