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Systemic mastocytosis, the most common mast cell disease (MCD), is a rare disorder associated with mast cell hyperplasia and elevated plasma histamine and tryptase levels. According to WHO (2008), MCD is classified as a myeloproliferative neoplasm (MPN).
Tests generally appear in the order most useful for common clinical situations
| Test name: CBC with Platelet Count & Automated Differential |
| ARUP #: 0040003 |
| Methodology: Automated Cell Count with Flow Cell Differential |
| Use: Helpful in prognostication of mastocytosis May be helpful in differentiating nonallergic disease from mastocytosis allergic disease |
| Test name: Hepatic Function Panel |
| ARUP #: 0020416 |
| Methodology: Refer to individual components. |
| Use: Rule out hepatic involvement Panel includes albumin; alkaline phosphatase; aspartate aminotransferase; alanine aminotransferase; bilirubin, direct; protein, total; bilirubin, total |
| Test name: Tryptase |
| ARUP #: 0099173 |
| Methodology: Quantitative Fluorescence Immunoassay |
| Use: Measure total tryptase to confirm mast cell activation in diseases such as
Useful in determining cause of sudden, unexplained death Useful in prognosis of systemic mastocytosis |
| Limitations: Best results on samples collected 15 minutes to 3 hours after suspected cause of mast cell activation May take 1 hour to elevate in allergic reaction; will return to normal levels after 6 hours Assay measures total tryptase and does not distinguish between alpha and beta protein types |
| Test name: Histamine, Plasma |
| ARUP #: 0070036 |
| Methodology: Quantitative Enzyme-Linked Immunosorbent Assay |
| Use: Aid in evaluation of patient with allergic signs and symptoms; not used in diagnostic criteria |
| Test name: Eosinophilia Panel by FISH |
| ARUP #: 2002378 |
| Methodology: Fluorescence in situ Hybridization |
| Use: Provides significant prognostic information in patients with acute or chronic leukemia with eosinophilia In AML or chronic myeloproliferative neoplasms with eosinophilia, specific recurrent genetic changes can be detected, including inv(16)/t(16;16), and rearrangements of PDGFRA, PDGFRB and FGFR1 |
| Test name: CD2 by Immunohistochemistry |
| ARUP #: 2003505 |
| Methodology: Immunohistochemistry |
| Use: Aid in histologic diagnosis of mast cell disease Stained and returned to client pathologist; consultation available if needed |
| Test name: CD25 by Immunohistochemistry |
| ARUP #: 2003544 |
| Methodology: Immunohistochemistry |
| Use: Aid in histologic diagnosis of mast cell disease Stained and returned to client pathologist; consultation available if needed |
| Test name: CD117 (c-Kit) by Immunohistochemistry |
| ARUP #: 2003806 |
| Methodology: Immunohistochemistry |
| Use: Aid in histologic diagnosis of mast cell disease Stained and returned to client pathologist; consultation available if needed |
| Test name: Mast Cell Tryptase by Immunohistochemistry |
| ARUP #: 2003993 |
| Methodology: Immunohistochemistry |
| Use: Aid in histologic diagnosis of mast cell disease Stained and returned to client pathologist; consultation available if needed |
| Test name: KIT (D816V) Mutation by PCR, Paraffin |
| ARUP #: 0040136 |
| Methodology: Polymerase Chain Reaction |
| Use: Diagnose and guide therapy in systemic mastocytosis Determine presence or absence of the D816V mutation in mastocytosis |
| Limitations: Low yield on blood Results must always be interpreted in the context of morphologic and other relevant data and should not be used alone for diagnosis of malignancy |
| Test name: KIT (D816V) Mutation by PCR, Tissue |
| ARUP #: 0040132 |
| Methodology: Polymerase Chain Reaction |
| Use: Diagnose and guide therapy in systemic mastocytosis Determine presence or absence of the D816V mutation in mastocytosis |
| Limitations: Low yield on blood Results must always be interpreted in the context of morphologic and other relevant data and should not be used alone for diagnosis of malignancy |
| Test name: Histamine, Whole Blood |
| ARUP #: 0070037 |
| Methodology: Quantitative Enzyme-Linked Immunosorbent Assay |
| Comments: |
| Test name: Histamine, Urine |
| ARUP #: 0070038 |
| Methodology: Quantitative Enzyme Immunoassay |
| Comments: Order when a more accurate and reliable determination of histamine production over a longer time period is required |
| Test name: KIT (D816V) Mutation by PCR, Fluid |
| ARUP #: 0040137 |
| Methodology: Polymerase Chain Reaction |
| Comments: Low yield on blood Determine presence or absence of D816V mutation in systemic mastocytosis |