KIT & PDGFRA Gene Mutation Screening For GI Stromal Tumors
How the Test Is Performed
DNA is extracted and purified from paraffin-embedded tumor tissue. Selected exons of the KIT and PDGFRA genes are amplified by PCR, and the products are screened for mutations by denaturing HPLC (WAVE system, Transgenomic, Inc.). The presence of size altering mutations (deletions/insertions) is determined directly from the HPLC profile. Suspected point mutations are confirmed by direct DNA sequencing. Based on analysis of over 400 GIST samples, the sensitivity and specificity of this combined HPLC + sequencing approach are >98%.