Genetic Testing for Mast Cell Disorders
Mast Cell Disorders Genetic Testing Solutions
Our Genetic Laboratory and 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 allergen may be indicative or systemic mastocytosis, hereditary alpha-tryptasemia, or other mast cell disorders. Although each present with similar, severe, repeated allergy-like symptoms, effective treatments must target the various disease processes. This is possible through our high sensitivity genetic testing that can provide definitive, clinically-actionable diagnostics.
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Systemic Mastocytosis (SM)
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, along with widespread release of substances, including tryptase, that cause symptoms similar to allergic reaction. Organ damage can occur in severe cases.
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. HaT is a common autosomal dominant genetic trait (5%) caused by increased germline copies of the TPSAB1 gene, which encodes alpha-tryptase. Increased basal serum tryptase levels
Our Mast Cell Panel
- dPCR detection of the most common mutation resulting in systemic mastocytosis: cKIT D816V
- Sensitivity: 0.01%
- Reportable: 0.03% mutated alleles
For more information on mast cell disorders and genetic testing: