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Detection of Somatic Variants in the KIT Gene
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General
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Clinical Use:
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Activating KIT (c-KIT) gene variants have been reported in approximately 85% of gastrointestinal stromal tumours (GIST) and also in some types of leukaemia, mast cell disorders and melanomas.
C-KIT exon 11 activating mutations are the most common (70% GISTs), while exon 9, exon 13, and exon 17 are less common (~ 10%-15%, 1% and 1% GISTs respectively).
This test is used to select patients for treatment with tyrosine kinase inhibitors, e.g. imatinib (Glivec) which targets mutant KIT and is an effective for patients with advanced, metastatic or unresectable GIST.
Note: For analysis of KIT D816V for diagnosis of systemic mastocytosis, please refer to the test under 'KIT D816V. |
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Availability:
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Samples are tested routinely during the testing laboratory's hours of operation.
Please contact testing laboratory for urgent requests. |
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Aliases/Synonyms:
| GIST, |
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Code:
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HST |
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Handling Instructions (to laboratory):
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Contact testing laboratory for specific transport instructions. |
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Hyperlink:
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Reference Interval:
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Not Applicable
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Collection Requirements
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Container:
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Sterile Container (STERILE), |
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Sample Type:
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Blood; Fresh/Frozen Tissue; Formalin Fixed or FFPE Tissue; Cytological Fluid Samples; FNA |
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Minimum Collection Volume:
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N/A |
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Collection Instructions:
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Contact testing laboratory for specific collection instructions. |
Processing Requirements
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Alternate Containers:
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Processing Instructions:
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Minimum Assay Volume:
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N/A |
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Stability:
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Dependent on sample type |
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Transport Instructions (to testing laboratory):
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Contact testing laboratory for specific transport instructions. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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| Molecular Pathology |
Anatomical Pathology |
QEII Medical Centre |
6457 2679 |
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Last Updated : 30-08-2021 08:32 |