Next-generation sequencing has recently emerged as an accurate, cost-effective method to identify mutations across numerous genes known to be associated with response or resistance to specific targeted therapies. This test is a single assay that uses formalin-fixed paraffin-embedded tissue to assess for common mutations in the KIT and PDGFRA genes known to be associated with gastrointestinal stromal tumors (GIST). The results of this test can be useful for assessing prognosis and guiding treatment of individuals with GIST.
Rondell P. Graham, M.B.B.S., gives an overview of this test available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing compares to other testing approaches, and what clinical action can be taken due to the results of this testing.
Diagnosis and management of patients with gastrointestinal stromal tumors
Specimen Type: Tissue
Container/Tube: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.
Specimen Type: Tissue
Container/Tube: Slides
Specimen Volume: 1 stained and 10 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 10 unstained, non-baked slides with 5-micron thick sections of the tumor tissue.
Specimen Type: Cytology
Container/Tube: Cytology slide (Direct smears or ThinPrep)
Specimen Volume: 1 to 2 slides (stained and coverslipped) with a minimum of 5000 total nucleated cells
Collection Instructions: Submit 1 to 2 slides stained and coverslipped
Additional Information: Cytology slides will not be returned.
Day(s) and Time(s) Test Performed
Monday through Friday; Varies
Analytic Time
12 days