5-12 days
Test Updated:
MLABEL
KIT Mutation Detection - Melanoma
MEL
KIT Mutation Detection for Imatinib Therapy
c-KIT Mutation
KIT Exon 11, 13, 17 Mutations
AKT1
ALK
AR
AXL
BRAF
CCND1
CDK4
CDK6
CTNNB1
DDR2
EGFR
EGFRvIII
ERBB2
(HER2)
ERBB3
ERBB4
ERG
ESR1
ETV1
ETV4
ETV5
FGFR1
FGFR2
FGFR3
FGFR4
GNA11
GNAQ
HRAS
IDH1
IDH2
JAK1
JAK2
JAK3
KIT
KRAS
MAP2K1
MAP2K2
MET
MTOR
MYC
MYCN
NRAS
NTRK1
NTRK2
NTRK3
PDGFRA
PIK3CA
PPARG
RAF1
RET
ROS1
SMO
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Test Overview
Next Generation Sequencing
Oncogenic mutations within the KIT gene occur in a subset of melanomas, most frequently in those of mucosal (~20%) and acral (~15%) types, and less commonly in those from cutaneous and conjunctival sites. These KIT mutations are predicted to be activating, and are similar to those found in imatinib-responsive cancers of other types. Testing for KIT mutation in melanoma may aid in identifying patients who might benefit from therapies such as imatinib that target activated KIT. This DNA test is performed by targeted next-generation sequencing (NGS) and will detect KIT mutations within the sequenced regions of exons 8, 9, 11, 13 and 17 (see Additional Information below for specific regions sequenced). Specimens should contain an adequate proportion of neoplastic nuclei (>10%) in the areas to be extracted to ensure mutation detection.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Specimen Requirements
For formalin-fixed, paraffin-embedded tissue, a block containing an area with a high percentage of neoplastic cells (for micro-/macro-dissection) is preferred. Unstained, UNBAKED slides (5-8, 10-micron slides; 10-15 if few neoplastic cells are present) with associated H&E stained slide are also acceptable. Decalcified tissue or other fixatives will be accepted and the assay attempted, however these may result in failed testing due to degraded nucleic acid. Both blocks and slides should be stored at room temperature. A Diff-Quik or Papanicolaou stained aspirate smear (preferable containing a high percentage and overall amount of neoplastic cells) is also acceptable. Store at room temperature.
For formalin-fixed, paraffin-embedded tissue, a block containing an area with a high percentage of neoplastic cells (for micro-/macro-dissection) is preferred. Unstained, UNBAKED slides (5-8, 10-micron slides; 10-15 if few neoplastic cells are present) with associated H&E stained slide are also acceptable. Decalcified tissue or other fixatives will be accepted and the assay attempted, however these may result in failed testing due to degraded nucleic acid. Both blocks and slides should be stored at room temperature. A Diff-Quik or Papanicolaou stained aspirate smear (preferable containing a high percentage and overall amount of neoplastic cells) is also acceptable. Store at room temperature.