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Tryptase Gene Copy Number (HAT)
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General
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Clinical Use:
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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. |
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Availability:
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Samples are batched and tested once a month with results available 4-6 weeks after receipt of sample to PathWest from external laboratories. |
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Aliases/Synonyms:
| Alpha-tryptasemia , Alpha-tryptasemia Gene Test, HAT (hereditary alpha tryptasemia), Hereditary Alpha Tryptasemia Syndrome, TPSAB1/TPSB2 genotyping, Tryptase CNV Genotyping, |
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Code:
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IHAT |
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Handling Instructions (to laboratory):
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Send sample ambient. |
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Hyperlink:
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Unit of Measure:
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Not applicable |
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Reference Interval:
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Not Applicable
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Collection Requirements
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Container:
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EDTA (LAV9), |
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Sample Type:
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See container |
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Minimum Collection Volume:
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3mL |
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Collection Instructions:
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Non-medicare rebatable item. All patients except Public, VA and Pensioners must pay $175 upfront.
External referrals $175. |
Processing Requirements
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Alternate Containers:
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Acid Citrate Dextrose (ACD) |
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EDTA (PINK) |
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EDTA (LAVENDER) |
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Processing Instructions:
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Transport at Room Temperature. |
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Minimum Assay Volume:
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See container |
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Stability:
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Ambient |
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Transport Instructions (to testing laboratory):
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Send sample ambient. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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Immunology |
Fiona Stanley Hospital |
6152 8006 |
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Last Updated : 24-06-2026 09:57 |