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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.


CPD4 mL CPD Blood (Preferred)
CPD2 mL CPD Bone Marrow (Preferred)
EDTA4 mL EDTA Blood
EDTA2 mL EDTA Bone Marrow
Sterile ContainerSterile 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
Nikhil Ghallayan (Section Leader)   ext 22006
Molecular Haematology Lab   ext 22005

For more inforamtion 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 11:48:27 18/03/2021