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c-kit Acquired-Mutation Detection

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

Specimen Collection

Note: The test methodology used in this lab has been developed for haematological neoplasms and is not suitable for tumours such as melanoma. All samples should be forwarded to LabPlus at room temperature within 24hours.


CPD

4 mL CPD Blood (Preferred)

CPD

2 mL CPD Bone Marrow (Preferred)

EDTA

4 mL EDTA Blood

EDTA

2 mL EDTA Bone Marrow

Sterile Container

Sterile Container Tissue
Turnaround Time: Within 4 weeks
Diagnostic Use and Interpretation
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



Information on the c-kit Mutations:

The proto-oncogene c-Kit encodes a transmembrane tyrosine kinase receptor which is expressed on cells such as haematopoietic stem cells and mast cells. A relatively common D816V mutation in exon 17 has been identified in patients with mastocytosis but additional activating mutations have now also been identified in other proliferative disorders. Mutations within exons 8 to 13 and exon 17 have been associated with gastrointestinal stromal tumours, haematopoietic neoplasms and mastocytosis.

References : Nagata H et al. PNAS (1995), 92, 10560-10564. Lengyel et al Current Molecular Medicine 7(1):77-84, 2007. Paschka et al Journal of Clinical Oncology 24:3904-3911, 2006.


Last updated at 15:36:59 07/03/2024