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Detection of KIT D816V Variant in Systemic Mastocytosis
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General
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Clinical Use:
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An activating variant in the c-KIT gene at codon 816, D816V (p.Asp816Val), has been identified in over 80% of patients with systemic mastocytosis (SM) and is found in over 90% of patients with indolent systemic mastocytosis (ISM). D816V is considered a weak driver, promoting mast cell differentiation and maturation rather than proliferation, which is consistent with its association with indolent SM.
This test is therefore useful for the diagnosis of SM and as a prognostic marker for indolent disease. |
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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:
| c-KIT Mutation Analysis, KIT D816V, p.Asp816Val, Systemic Mastocytosis, |
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Code:
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HST |
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Handling Instructions (to laboratory):
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Send sample ambient if same day arrival is expected.
If delivery will be delayed, send sample chilled. |
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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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EDTA (LAVENDER), or, Sterile Container (STERILE), |
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Sample Type:
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Blood; Fresh/Frozen tissue; Formalin Fixed or FFPE Tissue; Bone Marrow Trephine; Bone Marrow Aspirate; Cytological Fluid Samples; FNA |
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Minimum Collection Volume:
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Blood - 3mL EDTA |
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Collection Instructions:
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A volume of 1ml is acceptable for children, when only a small volume can be obtained.
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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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Blood - 1mL EDTA |
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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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Send sample ambient if same day arrival is expected.
If delivery will be delayed, send sample chilled. |
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 : 06-11-2024 07:47 |