Molecular Testing for Mast Cell Disorders

ARUP offers ultrasensitive and highly specific assays to optimize the diagnosis of mast cell disorders (MCDs) and differentiate disease subtypes.

Systemic Mastocytosis

KIT (D816V) Mutation by ddPCR, Quantitative 3002956

This assay aids in the diagnosis of systemic mastocytosis (SM) in peripheral blood and bone marrow specimens and provides important information to predict therapy response.

  • Recommended first-line test: The National Comprehensive Cancer Network (NCCN) recommends KIT mutational analysis as a first-line test for the evaluation of SM.
  • Ultrasensitivity increases diagnostic yield: This assay detects lower concentrations of mutated cells (as low as 0.03% variant allele frequency) and is easily performed on peripheral blood, providing a less invasive testing option.

Hereditary Alpha-Tryptasemia

TPSAB1 Copy Number Analysis by ddPCR 3017399

This assay aids in the diagnosis of hereditary alpha-tryptasemia (HαT) in whole blood and bone marrow specimens. HαT is enriched in patients with mastocytosis and is associated with an increased risk of severe mediator symptoms and anaphylaxis.

Testing for TPSAB1 copy number variants (CNVs) may also be considered in individuals with confirmed or suspected SM, Ehlers-Danlos syndrome or other connective tissue abnormalities, recurrent anaphylaxis, severe postural orthostatic tachycardia syndrome, irritable bowel syndrome, systemic venom reactions, or other systemic immediate hypersensitivity reactions.

  • Recommended test: NCCN guidelines recommend considering TPSAB1 mutational analysis for any individual who is being evaluated for SM.
  • High specificity: This assay quantifies the absolute copy numbers of α-tryptase and β-tryptase to identify possible pathogenic genotypes.

Why Choose ARUP

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ARUP is the only laboratory to offer both an ultrasensitive KIT mutational assay and TPSAB1 mutational copy number analysis assay.

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ARUP’s nationally and internationally recognized experts in MCDs guide test development and offer consultations on result interpretation.
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Our single location laboratory provides access to convenient ancillary testing.
 

Additional Testing

3016621
Myeloid Malignancies Mutation and Copy Number Variation Panel by Next Generation Sequencing

2011117
Myeloid Malignancies Mutation Panel by Next Generation Sequencing

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Eosinophilia Panel by FISH

Multigene next generation sequencing and chromosome analysis by fluorescence in situ hybridization (FISH) may also be considered to evaluate additional mutations relevant in the diagnosis and treatment of MCDs.

Educational Resources

Continuing Education (CME) Video Lectures

ARUP Consult®