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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. |
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Aliases/Synonyms:
| Alpha-tryptasemia , HATS, Hereditary Alpha Tryptasemia Syndrome, TPSAB1, |
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Code:
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IIRD |
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Handling Instructions (to laboratory):
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Send sample ambient. |
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Hyperlink:
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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. |
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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Minimum Assay Volume:
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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 : 20-10-2025 14:01 |