Hereditary Alpha-Tryptasaemia Testing

Hereditary Alpha-Tryptasaemia (HαT) testing

PathWest Laboratory Medicine WA is pleased to offer Australia’s first NATA-accredited test for HαT, a genetic trait associated with elevated mast cell tryptase levels and variable clinical presentation.

About the test

HαT is a genetic trait caused by extra copies of the alpha tryptase gene and is linked to raised mast cell tryptase levels. While many individuals with HαT have no symptoms, others may experience allergic reactions or non-specific symptoms such as flushing, abdominal pain, or connective tissue issues. Importantly, HαT is an important differential in the investigation of mastocytosis, a rare condition that requires invasive investigations such as bone marrow biopsy for diagnosis.

The HαT test helps to:

  • Identify individuals with increased alpha tryptase gene copies
  • Differentiate HαT from Mastocytosis early in the diagnostic pathway
  • Reduce unnecessary haematology referrals, invasive bone marrow testings, and associated patient anxiety.

 Benefits of HαT testing

  • For patients: Can avoid invasive bone marrow biopsies and additional specialist visits, reduces delays in diagnosis, and provides clarity in the management of symptoms.

  • For referrers: Improves diagnostic yield, supports clinical decision-making, and reduces unnecessary haematology consults and follow up visits.

Cost for testing

  • $150 (WA public patients)
    •  Billed to institution
  • $175 (external / private patients).
    • Please indicate if patient or institution should be billed

Turnaround

  • Approximately 4 weeks from sample receipt at PathWest laboratory.

Accreditation

  • This is the first NATA-accredited HαT test available in Australia, developed and validated in-house by PathWest Immunology.

Eligibility and requesting

  • Available for patients with persistently raised serum tryptase levels or where HaT is clinically suspected.

  • Can be requested by health care providers through standard Pathology test ordering pathways. Click here for PathWest request form.

  • Test is already available for requesting through PathWest.

Sample requirements

  • Minimum of 3 mL EDTA blood.

Further information

 

Contact Information

Department of Immunopathology, PathWest Laboratory Medicine WA

📞 (08) 6152 8006


Clinical Scientist

Dr Dianne De Santis
Clinical Immunology, PathWest Laboratory Medicine WA📧 dianne.desantis@health.wa.gov.au


Immunopathologist

Clinical Professor Sam Salman
Immunopharmacology - Immunology / Clinical Pharmacology and Toxicology
📧 sam.salman@health.wa.gov.au

 

 

 

 

Last Updated: 26/09/2025