Pathology Handbook

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Hereditary alpha-tryptasemia (HAT)

Alternative Names:

Alpha-tryptasemia
HATS
Hereditary Alpha Tryptasemia Syndrome
TPSAB1

Laboratory:

Human Molecular

Test Code:

MISC MS

Specimen Types:

Blood

Container Types:

EDTA 6 mL

Adults Volume or Mass:

3 mL

Minimum/Paediatric Volume or Mass:

3 mL

Transport Instructions between Sites and/or Laboratories:

Room Temperature

Assay Frequency:

Monthly

External Laboratory:

PathWest - Fiona Stanley

Billing Information:

Non-medicare rebatable item. All patients except Public, VA and Pensioners must pay $175 upfront.

Additional Notes:

Hereditary alpha-tryptasemia (HAT) is an autosomal dominant genetic trait caused by an increased copy number of the alpha-tryptase encoding sequence in the TPSAB1 gene on a single allele.
Patients with HAT typically have a basal serum tryptase (BST) > 8.0ug/L.
TPSAB1 copy number variant (CNV) testing can be useful to help identify patients with HAT as the cause of elevated BST, potentially preventing unnecessary invasive investigations to rule out diagnose clonal mast cell disease such as systemic mastocytosis (SM) in some patients.