Once you suspect SM, test for
KIT D816V1

  • Additional testing is required for diagnosis and subtyping.

Access high-sensitivity KIT D816V testing

It is critical to use high-sensitivity KIT D816V assays,
as low-sensitivity assays may fail to detect the mutation.1

Blueprint Medicines sponsors high-sensitivity (<1 %) KIT D816V testing
at no charge* for eligible patients.


Please see important
details below:

  • While Blueprint provides financial support for this program, testing services are performed by an independent third party and Blueprint Medicines assumes no liability and provides no warranties for the testing services provided by independent third parties
  • This program is subject to eligibility criteria available at oncology.labcorp.com/blueprintsm
  • Healthcare professionals shall use independent medical judgment in determining whether patients meet the program criteria for participation
  • No identifiable patient data will be shared with Blueprint Medicines as part of this program
  • This program is available in the United States only
  • Healthcare professionals and patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Blueprint Medicines or Labcorp product or service
  • No payers, including government payers, are billed for this program
  • *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 a KIT D816V test; however, Labcorp will bill selected payer(s) for other testing services ordered.
  • 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 oncology.labcorp.com/blueprintsm for full program details and program eligibility.
  •  SM=systemic mastocytosis.

High-sensitivity (<1%) KIT D816V testing is also available through other independent laboratories

Find a lab offering high-sensitivity KIT D816V assays

SEE RESOURCE pdf download
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Did you know?

Performing a high-sensitivity
test can help confirm SM1


A thorough workup that may include a high-sensitivity KIT D816V assay is required for definitive diagnosis1

KIT D816V testing is a critical part of the diagnostic workup

It is recommended by ECNM-AIM to screen for KIT D816V in patients with suspected SM as a first step.1

A highly sensitive PCR-based method (eg, ASO-qPCR or ddPCR with <1% sensitivity via VAF) can be used to screen for the presence of KIT D816V in peripheral blood.1

Patients who test positive for KIT D816V using high-sensitivity KIT testing have an increased likelihood of SM. Initiate further workup to assess if the patient meets WHO criteria for SM diagnosis (see below for full WHO criteria).1-3

If KIT D816V test is negative and/or basal serum tryptase is <11.5 ng/mL in patients with high clinical suspicion of SM, bone marrow biopsy is critical to rule out SM.1,4,5

4th edition World Health Organization (WHO) diagnostic criteria for SM

Diagnosis of SM requires the presence of 1 major criterion and at least 1 minor criterion, or at least 3 minor criteria3

Major criterion

Multifocal aggregates of ≥15 mast cells in bone marrow sections and/or other extracutaneous organ(s)

Minor criteria

  • 1In biopsy sections of bone marrow or other extracutaneous organs, >25% of mast cells in the infiltrate are spindle-shaped or have atypical morphology; or >25% of all mast cells in bone marrow aspirate smears are immature or have atypical features
  • 2Presence of activating point mutation at codon 816 of KIT in bone marrow, blood, or other extracutaneous organ
  • 3Mast cells in bone marrow, blood, or other extracutaneous organs express CD25, with or without CD2, in addition to normal mast cell markers
  • 4Serum total tryptase persistently >20 ng/mL (if patient has an associated myeloid neoplasm, this parameter is not valid)

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