Mast Cell Disorders Testing Algorithm

Mast cell disorders are a diverse group of conditions characterized by inappropriate mast cell (MC) activation and/or the proliferation and accumulation of abnormal MCs throughout the body. These conditions range in severity from benign, nonclonal disorders to malignant clonal diseases that rapidly progress and may involve the skin (eg, cutaneous mastocytosis) or extracutaneous organs (eg, systemic mastocytosis). An initial laboratory workup for mast cell disorders may include measuring serum tryptase and performing KIT gene mutational analysis on bone marrow and/or peripheral blood.