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Blueprint Medicines’ biomarker testing program for systemic mastocytosis

Blueprint has a no-charge* biomarker testing program for systemic mastocytosis (SM)

SM is driven by the KIT D816V mutation in approximately 95% of cases.1-3 Noninvasive and highly-sensitive KIT D816V testing early in a patient’s diagnostic journey may reduce the time to diagnosis.1,4-6

This test is provided by Labcorp Oncology for eligible patients at no charge* through the sponsored testing program from Blueprint Medicines. High sensitivity (<1%) KIT D816V testing is also available through independent laboratories.

*Terms and conditions, including eligibility criteria apply. The KIT D816V test will be provided at no cost to patients, healthcare providers, and payers through this program. Excludes office visit, sample collection for tests not associated with this program, and any other related costs to patients. Labcorp will not bill the eligible patient’s insurance for KIT D816V test, however, Labcorp will bill selected payer(s) for other testing services ordered.

Program eligibility

Patients must be 18 years of age or older, have not been tested previously under this program, and have 2 or more of the following signs and symptoms of SM:

Clinical features

  • Maculopapular lesions with Darier’s sign
  • Recurrent or unexplained anaphylaxis (often coupled with hypotension and syncope)
  • Anaphylaxis due to Hymenoptera sting
  • Recurring and unexplained gastrointestinal upset (eg, recurring and unexplained nausea, vomiting, and/or diarrhea)


  • Presence of hematologic neoplasms known to occur with systemic mastocytosis (CMML, MDS, MPN, MDS/MPN, CEL, AML)
  • Presence of adult-onset cutaneous mastocytosis
  • Chronic use of allergy medications (eg, corticosteroids or mast cell stabilizers)

Lab findings

  • Biopsy showing bone marrow or extracutaneous mast cell involvement by way of immunophenotyping with IHC (tryptase, CD117, CD25, CD30), with or without flow cytometry (CD34, CD117, CD25, CD2, CD30)
  • Elevated serum tryptase (≥7 ng/mL)

Terms and conditions apply. Testing performed by Labcorp. While Blueprint Medicines provides financial support, Blueprint Medicines assumes no liability and provides no warranties for the testing services provided by independent third parties. See Labcorp website for full program details and program eligibility.

AML, acute myeloid leukemia; CEL, chronic eosinophilic leukemia; CMML, chronic myelomonocytic leukemia; IHC, immunohistochemistry; MDS, myelodysplastic syndrome; MDS/MPN, myelodysplastic/myeloproliferative neoplasms; MPN, myeloproliferative neoplasm.

References: 1. Pardanani A. Am J Hematol. 2021;96(4):508-525. 2. Rossignol J, et al. F1000Res. 2019;8:F1000 Faculty Rev-1961. 3. Valent P, et al. Int J Mol Sci. 2019;20(12):2976. 4. Mesa RA, et al. 62nd Annual Meeting of the American Society of Hematology; December 5-8, 2020; virtual meeting. 5. Arock M, et al. Leukemia. 2015;29(6):1223-1232. 6. Labcorp. KIT (D816V) Digital PCR. Accessed May 25, 2023.

Contact Blueprint Medicines

Blueprint Medicines is a pharmaceutical company focusing on the research, development, and commercialization of products in oncology, hematology, and rare diseases. This website is for US healthcare professionals for educational purposes only. Scientific information and data may include investigational use(s) of compounds for which efficacy and safety have not been established. Blueprint Medicines does not promote or endorse the use of its products in a manner not consistent with the approved label.