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Testing for Hereditary α-Tryptasemia:

TPSAB1 Copy Number Analysis by Droplet Digital Polymerase Chain Reaction by Anna Shestakova, MD, PhD

Hereditary α-tryptasemia (HαT) is the most common genetic cause of elevated basal serum tryptase (BST) levels and is a risk factor for severe anaphylaxis. This white paper examines the role HαT plays in the diagnosis and prognosis of systemic mastocytosis, including the genetic basis and clinical significance of (HαT), and the testing utility in the context of hematology/oncology and immunology/allergy.