GIST Mutation Detection Kit
Cat Number: GIST-RT44
The GIST Mutation Detection Kit is a PCR-based assay that detects somatic mutations in the c-KIT and PDGFRA genes, which are associated with gastrointestinal stromal tumor development, prognosis, and response to targeted therapies.
- Below 5% Limit of Detection
- 44 tests per kit
- 2-hour turnaround time
- Works with FFPE and fresh frozen samples
- 4 Reactions per sample
- For research use (RUO) in the U.S
- For in vitro diagnostic use (IVD) in the European Union
Mutations in the c-KIT and PDGFRA genes are key oncogenic drivers in gastrointestinal stromal tumors (GISTs), occurring in over 80% and 5–7% of cases, respectively. These mutations not only contribute to tumorigenesis but also serve as critical biomarkers for prognosis and response to targeted therapies, such as tyrosine kinase inhibitors.
The GIST Mutation Detection Kit is a real-time PCR assay designed for the sensitive and specific detection of somatic mutations in c-KIT and PDGFRA. Using a multiplex, probe-based approach, the assay amplifies mutant-specific sequences in samples containing a mixture of wild-type and mutant DNA, ensuring accurate mutation detection. The kit includes primer sets and fluorescent probes for mutation identification, along with an endogenous control to verify sample quality and assay performance.
The kit is optimized for use with FFPE and fresh frozen samples.
The GIST Mutation Screening Panel detects the following mutations:
| Gene | Mutation | COSMIC ID | Primer Mix Tube |
| PDGFRA | EX18_p.D842V | COSM736 | 1 |
| c-Kit | EX11_p.V559D | COSM1252 | |
| EX11_p.V559G | COSM1253 | ||
| EX11_p.V560D | COSM1257 | ||
| EX11_W557R | COSM1216 | ||
| EX17_p.D816H | COSM1311 | ||
| EX17_p.D816V | COSM1314 | ||
| EX11_p.L576P | COSM1290 | 2 | |
| 2EX13_p.K642E | COSM1304 | ||
| EX9_p.Y503_F504insAY | COSM12444 | ||
| EX11_p.W557_E561del | COSM18890 | 3 | |
| EX11_p.W557_K558del | COSM12449 | ||
| EX11_p.W557_V559>C | COSM1233 | ||
| EX11_p.W557_V559>F | COSM1226 | ||
| EX17_p.K818R | COSM1315 | ||
| EX17_p.N822H | COSM1318 | ||
| EX17_p.N822Y | COSM19109 | ||
| EX11_p.V559A | COSM1255 | 4 | |
| EX11_p.W557G | COSM1221 | ||
| EX17_p.D820Y | COSM12710 | ||
| EX17_p.N822K | COSM1322 | ||
| EX17_p.D820G | COSM1316 |
The GIST Mutation Detection Kit follows a simple and easy to use process. It can be completed in 2 hours and follows a simple straightforward process.
EntroGenʼs GIST Mutation Gene Detection Kit requires a real-time PCR instrument capable of detecting FAM, VIC, ROX and CY5 fluorescent probes. This test includes reagents required for PCR amplification/detection, as well as validated reaction controls.
Columns and reagents for DNA isolation are not included. Genomic DNA from FFPE tissues can be extracted using EntroGen pureNA® Genomic DNA Isolation Kit.
