KIT D816V Mutation Testing
Containers - Adult
Red Cap Tube EDTA KE 2.7ml
5ml peripheral blood, bone marrow specimen or FFPE tissue
Additive per Container
FFPE block / H&E slide / Pathology report
Blood and bone marrow specimens should ideally arrive within 24 hours of collection (maximum of 48 hours). There is no time limit for FFPE samples. Samples should be sent to the following address:
Western General Hospital
Haematology/Biochemistry Combined Reception
See also Specimen transportation.
Sample storage arrangements
Samples should be stored at room temperature. See specimen requirements.
How to request
Monday - Friday 9am-5pm
Results should be expected within 10 working days. See results.
This test is accredited to ISO 15189:2012
General additional information
Due to the presence of the KIT D816V mutation within mast cells, bone marrow is the preferred specimen type for this assay. While testing can be performed using peripheral blood, a false negative result cannot be excluded.
This assay may fail to detect other mutations of KIT at codon 816 (e.g. p.D816H)
The KIT p.D816V mutation is observed in approximately 90% of patients with systemic mastocytosis and arises as a result of the KIT c.2447A>T nucleotide change. Other systemic mastocytosis patients may display other mutations at D816. Since, systemic mastocytosis patients may present with eosinophilia, assessment of KIT p.D816V can also be performed in patients with eosinophilia.
Mutations within KIT, including KIT p.D816V, are also observed in patients with core finding factor leukaemia [CBFB-MYH11 / inv(16) and RUNX1-RUNX1T1 / t(8;21)]. Thus, patients who are identified as having CBFB-MYH11 and RUNX1-RUNX1T1 fusion gene are tested for the presence of a KIT D816V mutation.
For more information please see testing.
For clinical advice on appropriate investigations and advice for the interpretation of test results, please see contact us.