Gastrointestinal Stromal Tumors (GISTs), c-KIT Mutation Analysis With Reflex to PDGFRA Mutation Analysis
Also known as: Gastrointestinal Stromal Tumors (GISTs), Tyrosine Kinase Inhibitors (TKI, Imatinib) Responsiveness
Use
c-KIT is a proto-oncogene that encodes a type III transmembrane tyrosine kinase. c-KIT and its ligand stem cell factor have a key role in survival, proliferation, differentiation, and functional activation of cells.
Special Instructions
Not provided.
Limitations
Genomic DNA is isolated from the specimen, and exons 9, 11, 13, and 17 of the c-KIT gene are sequenced. The assay detects mutations down to 10% in a background of nonmutant cells but may miss mutations below this threshold. It is not FDA cleared or approved; performance characteristics were internally established by LabCorp.
Methodology
PCR-based (PCR)
Biomarkers
No genes
GeneNo genes
Gene
LOINC Codes
- 55201-8 - KIT gene Mut Anl Bld/T
- 48004-6 - DNA change
- 48005-3 - Amino acid change
- 77202-0 - Laboratory comment Report
- 49549-9 - Ref lab test method
- 72486-4 - Lab director name Provider
- 8100-0 - Specimen preparation
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
FFPE block or five 10-μM unstained slides
Minimum Volume
2 mm x 2 mm tumor area with ≥50% tumor
Container
Slides or blocks
Collection Instructions
Provide a copy of the pathology report. Contact oncology customer service for inquiries.
Storage Instructions
Maintain blocks and slides at room temperature.
Causes for Rejection
Insufficient tumor tissue, heavy metal fixatives, broken or stained slides
Other tests from different labs that may be relevant