Measurement of the serum tryptase level is the most accurate means of screening for systemic involvement with mastocytosis. Levels in the normal range indicate cutaneous disease only; levels greater than 20 ng/mL are indicative of systemic involvement, and further systemic workup is warranted. Urine histamine and histamine metabolites can also be assessed but seem to be less sensitive and less specific than the serum tryptase level. If systemic involvement is considered, further testing with a bone marrow biopsy may be indicated. Molecular genetic testing can be performed on the bone marrow sample to assess for the KIT gene mutation.
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