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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.
4 mL CPD Blood (Preferred)
2 mL CPD Bone Marrow (Preferred)
4 mL EDTA Blood
2 mL EDTA Bone Marrow
Sterile Container Tissue
Turnaround Time: Within 4 weeks
Diagnostic Use and Interpretation
Contact Information
To contact the Molecular Haematology team please call:
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