The starting point for any diagnosis is a thorough physical examination, particularly of the skin.

Diagnosis of mastocytosis is based on a biopsy. Tissue is taken from the affected organs and analysed for levels of the serum tryptase, the presence of which indicates a proliferation of mast cells. High levels of tryptase indicate a probable case of systemic mastocytosis. If symptoms are visible on the skin, a skin biopsy should be carried out.   

At the onset of illness in adults, a bone marrow examination is recommended. This is not necessary in most cases of childhood mastocytosis.

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