Mast Cell Disorders Testing Solutions
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, severe, repeated allergy-like symptoms, 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 efficiency and confidence of clinical action.
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, and widespread release of substances, including tryptase, that cause symptoms similar to an 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. Multisystem symptomatology among patients with HaT include:
- Skin flushing; itching; hives
- Anaphylaxis
- Connective tissue abnormalities
- Gastrointestinal symptoms
- Cardiovascular symptoms
- Neurological symptoms
Create an order and access test results.
- Create an order from Our Provider Portal or via Requisition Form
- Please be sure to obtain patient consent for genetic testing
- Access secure, encrypted results from our Provider Portal
Our Mast Cell Disorder Tests
- dPCR 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
- Sensitivity: 0.005%
- Reportable: 0.015% mutated alleles
- dPCR detection of copy number variations of the TPSAB1 gene on the tryptase locus.
For more information on mast cell disorders and genetic testing:
References
Systemic Mastocytosis
- 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.
Hereditary Alpha-tryptasemia
- Lyons JJ, et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nat Genet. 2016 Dec;48(12):1564-1569. doi: 10.1038/ng.3696. Epub 2016 Oct 17. PMID: 27749843; PMCID: PMC5397297.