DISCLAIMER: This link was displayed at 20:16:33 12/07/2025 and expires on 17/07/2025 if printed.

Go to http://testguide.adhb.govt.nz/EGuide/ for more information.

KIT D816V Variant Analysis

DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Haematology

Specimen Collection

Please contact Molecular haematology for any other sample type before requesting KIT D816V Variant Analysis


EDTA4 mL EDTA Blood (Preferred)
EDTA2 mL EDTA Bone Marrow (Preferred)
CPD4 mL CPD Blood
CPD2 mL CPD Bone Marrow
Turnaround Time: Within 4 weeks
Assay Method

Testing is performed by droplet digital PCR (ddPCR) using the BioRad ddPCR Assay kit dHsaMDV2010023. This assay has a variant allele frequency (VAF) sensitivity of 0.1%.

KIT (non D816V) and variants at other sites of KIT will not be detected by this assay.


Diagnostic Use and Interpretation

The KIT p.(Asp816Val) (D816V) is an established activating variant that is observed in the majority of patients with systemic mastocytosis (SM). Detection of activating KIT variants constitutes one of the minor diagnostic criteria for SM.


Contact Information

To contact the Molecular Haematology team please call:

Auckland City Hospital   (09) 307 4949
Lablink   ext 22000
Prof. Peter Browett (Haematologist)     ext 9090-86281
Dr. Imogen Caldwell (Haematologist)   ext 22006
Nikhil Ghallayan (Section Leader)   ext 22005
Molecular Haematology Office   ext 22005

For more information about the Molecular Haematology service at LabPLUS:

Molecular Haematology information page


Specimen Transport Instructions for Referring Laboratories

This assay is only suitable for peripheral blood and bone marrow aspirate samples. Samples should be forwarded to LabPlus at room temperature (>8 degrees Celcius <24 degrees Celcius) within 48 hours from collection.



Last updated at 16:30:57 17/06/2025