Test Directory

KIT D816V Mutation Testing

Containers - Adult

Red Cap Tube EDTA KE 2.7ml	Volume Range 5ml peripheral blood, bone marrow specimen or FFPE tissue Additive per Container EDTA
FFPE block / H&E slide / Pathology report

Laboratory Site

WGH

Crewe Road South
Edinburgh
EH4 2XU

Telephone: 0131 537 1000

Transport arrangements

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

Immunophenotyping Laboratory

Crewe Road

Edinburgh

EH4 2XU

Sample storage arrangements

Samples should be stored at room temperature. See specimen requirements.

How to request

Please refer to our detailed requesting instructions. The HMDS request form can be located here.

HMDS request form PDF_v5.pdf

Requests for testing FFPE tissue should be sent to the Molecular Pathology Service at RIE with a completed HMDS test request form.

Availability

Monday - Friday 9am-5pm

Anticipated turnaround

Results should be expected within 10 working days. See results.

Static information/disclaimer

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.