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:High-sensitivity (<1%) KIT D816V testing is also available through independent laboratories
(Testing Code: 3002956)
(Commercial Testing Code: 485126;
Sponsored Testing Code: 485140)
(Testing Code: KITVS)
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
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