Genetic Testing For Mast Cell Disorders
One of the hallmarks of an allergic process includes mast cell activation and subsequent release of mediators – the most abundant of which is tryptase. Elevated tryptase in the absence of provocation or exposure to an allergen(s) may be indicative of systemic mastocytosis, hereditary alpha-tryptasemia, or other mast cell disorders. Although each disorder presents with similar, recurrent allergy-like symptoms, sometimes severe, the underlying disease process may be vastly different, which can make targeted therapy difficult to achieve. Our highly sensitive genetic tests for mast cell disorders provide results that can assist in the differential diagnosis of these disorders and increase the efficiency and confidence of clinical action.
Systemic Mastocytosis (SM)
Systemic Mastocytosis (SM) is a hematopoietic neoplasm characterized by unrestrained growth potential of clonal mast cells in multiple organs, including bone marrow. Most cases of SM are caused by an acquired genetic change in the KIT gene, which results in mast cell accumulation in tissues and organs, and widespread release of substances, including tryptase, that cause symptoms similar to an allergic reaction. Organ damage can occur in severe cases. Please refer Resources Page for more information.
Hereditary Alpha-tryptasemia (HaT)
Tryptase is the most abundant protein component of mast cell secretory granules, and its levels can be indicative of mast cell activity. Hereditary Alpha-tryptasemia (HaT) is a common autosomal dominant genetic trait (5%) caused by increased germline copies of the TPSAB1 gene, which encodes alpha-tryptase. Symptoms can invloves many systems, such as skin with flushing, itching, and hives, connective tissues, gastrointestinal tract, cardiovascular, and neurological symptoms. Please refer Resources Page for more information.
Mast Cell Disorder Genetic Test Menu
- Digital PCR detection of the most common mutation resulting in systemic mastocytosis: cKIT D816V
- Detection of the cKIT D816V mutation is a minor diagnostic criteria for systemic mastocytosis Please refer to Resources Page for WHO criteria for diagnosis of matocytosis.
- Test Sensitivity: 0.005% (improved compared to other laboratories)
- Reportable sensitivity: 0.015% mutated alleles (improved compared to other laboratories)
- Greiner G, et al. Digital PCR: A Sensitive and Precise Method for KIT D816V Quantification in Mastocytosis.
- Clin Chem. 2018 Mar;64(3):547-555. doi: 10.1373/clinchem.2017.277897. Epub 2017 Dec 13. PMID: 29237714; PMCID: PMC7115889.