GIST Mutation Screening Panel

Available Products

Product Name/Description
No. of Reactions*
Product Code
GIST Mutation Screening Panel for Real-Time PCR
44
GIST-RT44

*Includes all controls.

 

PDGFRA & c-KIT Mutations in GIST
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the GI tract. Over 80% of GISTs harbor activating mutation in c-KIT and approximately 5-7% in PDGFRA. Although these mutations cause tumorigenesis, they also predict response to targeted therapies and provide prognostic information.

The GIST Mutation Screening Panel detects the following mutations:

 

Gene Mutation COSMIC ID
PDGFRA EX18_p.D842V COSM736
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
EX13_p.K642E COSM1304
EX9_p.Y503_F504insAY COSM1326
EX11_p.W557_E561del COSM1332
EX11_p.W557_K558del COSM1217
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
EX11_p.W557G COSM1221
EX17_p.D820Y COSM12710
EX17_p.N822K COSM1322
EX17_p.Y823D COSM18681
EX17_p.D820G COSM1316

Testing Procedure and Analysis

EntroGen’s GIST mutation screening panel is a polymerase chain reaction (PCR)-based assay that uses allele-specific primers to identify the presence of somatic mutations in c-KIT and PDGFRA genes. The testing procedure involves three (3) simple steps:

  • Isolation of DNA from tumor biopsies, paraffin-embedded sections (FFPE), or fresh frozen tumors
  • Amplification of regions of the c-KIT and PDGFRA genes using allele-specific primers
  • Analysis of the captured amplification data.

This test can be completed in approximately 2 hours from isolation of DNA to test result.

Equipment and Materials

EntroGen’s GIST mutation screening panel requires a real-time PCR instrument capable of detecting FAM, VIC, ROX and CY5 fluorescent probes.

This test includes reagents required for the PCR amplification/detection, as well as validated reaction controls. Columns and reagents for DNA isolation are not included.

Intended Use

USA: Available for research use only (RUO). Not for use in diagnostic procedures.

Europe: Available for research (RUO) and diagnostic (CE-IVD) purposes.

 

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