Sarcoma targeted gene fusion transcript analysis in Tissue by Sequencing

Sarcoma gene fusion analysis Tiss Seq

Definition

Evaluation of multiple gene fusion transcripts by sequence analysis, such as by next-generation sequencing, to detect the presence of somatic sarcoma-related gene fusions in a tissue specimen. Testing is performed for the diagnosis of specific soft tissue and bone tumors (sarcomas) based on the detected gene fusions. For example, a fusion between PAX3 and FOXO1 genes indicates an alveolar rhabdomyosarcoma and the EWSR1-FLI1 gene fusion is a present in Ewing's sarcomas. The overall result summary (fusion detected/not detected) along with information about the fusions identified, fusions targeted/tested, interpretation, testing method(s) and recommendations are typically included in the report.

Document; Finding; Findings; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Next generation sequencing; NGS; Point in time; Random; Sarcoma gene fusion analysis; Tissue; Tissue, unspecified