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Blueprint’s Biomarker Testing Program
Blueprint Medicines

No-Charge KIT D816V Testing*

Blueprint's Biomarker Testing Program

Blueprint's Biomarker Testing Program for Systemic Mastocytosis

Systemic Mastocytosis (SM) is a rare disorder characterized by neoplastic proliferation of mast cells driven by the KIT D816V mutation in greater than 90% of cases.1 Early biomarker testing using a non-invasive, highly sensitive, and quantitative KIT D816V test may reduce a patient’s time to diagnosis. This test is provided by Labcorp Oncology for eligible patients at no-charge through the sponsored testing program from Blueprint Medicines.*

Participating in the Program


Request Welcome Package

Request a welcome package from the Labcorp Program Team (by clicking HERE) to receive information on account setup and detailed instructions for test ordering and reporting.

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Order the KIT D816V test

Confirm patient meets the eligibility criteria (see Program Eligibility section below) and complete the test requisition form.  Then collect the specimen and contact Labcorp to schedule a pickup. 
Send patient to one of our  Labcorp Patient Service Centers along with completed test requisition form for specimen collection.

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Receive Results

Results will be reported to the healthcare provider based on report receipt preferences (i.e., Labcorp Link).
Labcorp patients can access their results via the Labcorp Patient Portal.

Program Eligibility

Patient must be age 18 or older, have not been tested previously under this program, AND have TWO or more of the following signs and symptoms of systemic mastocytosis. 

Clinical Features
  • Maculopapular lesions with Darier's sign
  • Recurrent or unexplained anaphylaxis (often coupled with hypotenstion and syncope)
  • Anaphylaxis due to Hymenoptera sting
  • Recurring and unexplained gastrointestinal upset (i.e., recurring and unexplained nausea, vomiting, and/or diarrhea)
  • Presence of hematological neoplasms known to occur with systemic mastocytosis (i.e., CMML, MDS, MPN, MDS/MPN, CEL, AML)
  • Presence of adult-onset cutaneous mastocytosis
  • Chronic use of medications for treatment of allergies (i.e., corticosteroids or mast cell stabilizers)
Lab Findings
  • Biopsy of bone marrow or extracutaneous involvement with mast cell immunophenotyping IHC (i.e., tryptase, CD117, CD25, CD30), with or without flow cytometry (i.e., CD34, CD117, CD25, CD2, CD30)
  • Elevated serum tryptase (≥7 ng/mL)

About Systemic Mastocytosis 

Systemic Mastocytosis (SM) is a rare, clonal, neoplastic proliferation of mast cells, resulting in heterogeneous symptoms due to infiltration of clonal mast cells in different organ systems, including, but not limited to, bone marrow, GI tract, skin, liver and spleen.2,3,4 

The median time from symptom onset to the diagnosis of SM can take up to seven years and involve patients visiting multiple specialists.5 Additionally, prognosis for patients with advanced forms of systemic mastocytosis is poor with median survival ranging from less than six months to three years depending on subtype.6,7  With its prevalence in greater than 90% of cases, the KIT D816V mutation is both a hallmark of SM and part of the clinical criteria for diagnosing SM.8,9

Patients with SM may have severe, unpredictable symptoms that negatively affect quality of life, including, but not limited to:

  • Adult-onset cutaneous mastocytosis10 
  • Anaphylaxis (in adult patients), often severe and presenting with cardiovascular features, including hypotensive syncope5 
  • Chronic diarrhea, nausea, and vomiting5 

Role of KIT D816V Mutation in SM

The vast majority of adult patients with SM have the KIT D816V mutation, with studies showing an increase in levels of the KIT D816V mutation when comparing indolent SM to aggressive SM.1,3,6,11 Low-sensitivity assays may fail to detect the KIT D816V mutation and testing for this mutation using a non-invasive and highly sensitive test may shorten patients’ time to diagnosis.8,12 Patients diagnosed with SM with the KIT D816V mutation may respond to treatments targeting this mutation.8 Additionally, monitoring levels of the KIT D816V mutation may aid in the evaluation of a patients’ response to treatment and disease progression.13 

The KIT D816V Digital PCR test by Labcorp is a highly sensitive assay that detects this mutation down to 0.03%. 



Sample Report KIT D816V Digital PCR (positive)

Sample Report KIT D816V Digital PCR (negative) – an educational resource about SM for healthcare professionals developed by Blueprint Medicines. 



  1. Garcia-Montero AC, et al. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood. 2006; 108 (7): 2366–2372. 
  2. Vaes M, et al. Targeted Treatment Options in Mastocytosis. Front Med. 2017;4:110. 
  3. Jara-Acevedo M, et al. Detection of the KIT D816V mutation in peripheral blood of systemic mastocytosis: diagnostic implications. Mod Pathol. 2015; 28(8):1138-1149. 
  4.  Rossignol J, et al. Recent advances in the understanding and therapeutic management of mastocytosis. F1000Res. 2019; 8.
  5. Jennings SV, et al. Patient Perceptions in Mast Cell Disorders. Immunol Allergy Clin of North Am. 2018; 38(3): 505-525. 
  6. Lim KH, et al. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood. 2009; 113(23):5727-5736.
  7. Sperr WR, et al. International prognostic scoring system for mastocytosis (IPSM): a retrospective cohort study. Lancet Haematol. 2019 Dec; 6(12): e638-e649.
  8. Pardanani A, et al. Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management. Am J Hematol. 2021 Apr 1; 96(4):508-525.  
  9. Valent P, et al. Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. Blood. 2017 Mar 16; 129(11): 1420–1427.
  10. Berezowska S, et al. Adult-onset mastocytosis in the skin is highly suggestive of systemic mastocytosis. Mod Pathol. 2014; 27(1):19–29.
  11. Greiner G, et al. Digital PCR: A Sensitive and Precise Method for KIT D816V Quantification in Mastocytosis.  Clin Chem. 2018 March 01; 64(3): 547–555. 
  12. Arock M, et al. KIT Mutation Analysis in Mast Cell Neoplasms: Recommendations of the European Competence Network on Mastocytosis. Leukemia. 2015 June; 29(6): 1223–1232.
  13. Erben P, et al. The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis. Ann Hematol. 2014; 93:81–88.

*The KIT D816V test will be provided at no-charge 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.


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