1. History (the onset and duration of the disease, provoking factors, presence of mediator-related symptoms and anaphylaxis, mastocytosis in family) |
2. Physical examination (inspection of the skin, Darier's sign, organomegaly: liver, spleen, lymph nodes) |
3. Skin biopsy |
4. Peripheral blood analysis and serum biochemistry |
5.Liver function tests |
6. Serum tryptase levels |
7. Abdomen ultrasound (or other imaging studies depending on individual presentation) |
8. Bone densitometry |
9. Bone marrow trephine biopsy (>2 cm). Antibodies against CD25, CD 117, and tryptase should be applied; in SM-AHNMD further immunohistochemical staining |
10. Blood and bone marrow smears |
11. Flow cytometric analysis of bone marrow MC for the presence of CD2 and CD25 |
12. Genetic examination – determination of KIT mutation (D816V) in bone marrow MC |