Testing guidelines for mastocytosis are informed by the World Health Organization (WHO) diagnostic criteria, most recently updated in 2022, and are used to help determine both the presence and the type of mastocytosis.11 The list below provides a brief overview of the testing specifically implicated in confirming a diagnosis of mastocytosis.43,44,45
There are only a limited number of tests utilised in the diagnosis of mastocytosis. However, symptoms often overlap with those of other chronic or immune-based conditions, which may mean you undergo a much broader range of tests than those listed below. Please communicate with your specialist if you are concerned about understanding your testing and how it relates to any suspected diagnosis, or if you have questions about any associated costs.
Key diagnostic tests used in Australia and Aotearoa New Zealand include
- Baseline serum tryptase – A blood test that measures tryptase, a chemical released by mast cells.46
- KIT D816V mutation testing – A blood test that looks for the most common somatic mutation found in mastocytosis.47,48
- Tissue testing – Usually taken from bone marrow, these samples can be tested for KIT D816V, which is present in around 90 per cent of adult presenting mastocytosis, and other mast cell markers such as CD2, CD25 and CD30.47,48
Further tests (B and C findings)
These tests can help determine the type and extent of systemic involvement and define a patient’s variant of mastocytosis.45
- Liver ultrasound or liver function tests – Checks for liver enlargement or signs of reduced liver function.48
- Bone density (DEXA) scan – Assesses bone strength and checks for osteoporosis or low bone density.48
- Abdominal imaging (ultrasound, CT or MRI) – Helps assess the spleen, lymph nodes or other organs if mast cell infiltration is suspected.48
Other tests you may hear about
- Hereditary alpha tryptasemia (HαT) – Can be tested for via blood or saliva testing. This is not a diagnostic criterion for mastocytosis, but the two conditions can co-occur, and HαT may contribute to symptoms in some cases.36,49
- Testing for other mast cell mediators, such as histamine in urine (preferred) or blood, or prostaglandins in urine, may also be used in some cases. However, these tests are not part of the official diagnostic criteria for mastocytosis, and their usefulness (clinical utility) will depend on the specialist assessing you.2,50
Note: We are also aware of other testing, typically offered by integrative or holistic providers, which has not been established or recognised for diagnosing mastocytosis or MCADs broadly, and which can carry substantial costs. If you are offered testing by a doctor other than an immunologist or hematologist that falls outside the list above, specifically for mastocytosis investigations, we strongly encourage you to ask about the purpose and clinical value of any test before consenting.
You may also wish to contact your specialist’s office, even before your first appointment, to confirm whether they accept or consider any supplementary test results as part of their diagnostic process.
Disclaimer
Last updated: 12 December 2025
Please note that this information is provided for general educational purposes only and does not replace medical advice, nor should it be used in place of consultation with a qualified health professional. While care has been taken to reflect current information based on reputable scientific source material at the time of writing, and TAMS will continue to update information periodically, omissions or inconsistencies may occur as scientific knowledge evolves.
