KIT D816V mutation analysis

Detection of KIT c.2447A>T (p.Asp816Val)
Lab Test name Contact Comments
CHU Liège - Hemato KIT D816V mutation analysis Dr Frédéric Lambert
Suspected systemic mast cell disease (SMCD).

Exclusively performed on EDTA anticoagulated BONE MARROW (not on blood) IF trephine biopsy showed spindel-shaped mast cell (MC) agegates AND/OR tryptase positive abnormal mast cells AND/OR serum tryptase level upper the N values AND/OR CD2/CD25/CD117+ MC on IHC.

Flow as well as the above mentioned results are welcome with the request.

ARN on dry ice is also accepted.

Test is performed as described by Cem Akin et al., Exp Hemato, 2000.
IPG Gosselies KIT D816V mutation analysis
CHU Liège - Hemato KIT D816V mutation analysis Dr Frédéric Lambert
In case of Core Binding Factor leukemia (AML with MYH11-CBFB or RUNX1-RUNX1T1 fusion).

EDTA anticoagulated blood (10 ml) or bone marrow (3 ml).

Test is performed as described by Cem Akin et al., Exp Hemato, 2000.
UZ Leuven MolPLUZ KIT D816V mutation analysis Lucienne Michaux / Els Lierman
Sample type: blood / bone marrow (EDTA, 2-5 ml)
Frequency: 1x/week
Test type: real-time PCR on DNA, based on Kristensen et al, Journal of molecular diagnostics 2011.
Accredited:
CUB Erasme - Medical Genetics Dpt KIT D816V mutation analysis Pierre Heimann/Barbara Dessars/Hakim El Housni
Real-Time fluorescent ARMS-PCR

Analytical sensitivity : 0.2%
UZA Mol. Diagn. KIT D816V mutation analysis K. Vermeulen, M-B Maes
digital droplet PCR, sensitivity ≤ 0.01%, blood and bone marrow
UZ Gent KIT D816V mutation analysis Barbara Denys,
Karl Vandepoele
real time PCR based on Kristensen et al. (Am J Hematol 2014)
Analysis performed on DNA.
FREQUENCY: 1x/week