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Systemic mastocytosis (SM) is a rare disease that can be difficult to diagnose because the clinical presentation and severity of symptoms varies by patient and sub-type of the disease and symptoms are non-specific. In almost all SM patients, a KIT D816V mutation is believed to be the primary driver of disease. If you have a patient with SM or whom you suspect has SM, the links below provide additional resources and information on the disease.*

Learn More about Diagnosing SM

Download an Article That Describes Steps That May Be Followed to Diagnose Mastocytosis and Other Mast Cell Disorders

  • Theoharides, Valent and Akin NEJM 2015 – Mast Cells, Mastocytosis and Related Disorders(need PDF)These links provide information on certain tests that may be useful in diagnosing SM.

Blood test to measure tryptase levels

KIT D816V mutation analysis

Find Medical Research Centers that Specialize in SM

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