Rekord LOINC: 95124-4
Dostępne tłumaczenie polskie ACTIVE
Tłumaczenie polskie
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
95124-4
FHIR
|
| Long Common Name: | Sarcoma targeted gene fusion transcript analysis in Tissue by Sequencing |
| Short Name: | Sarcoma gene fusion analysis Tiss Seq |
| Status: | ACTIVE |
| Class Type: | 1 |
Fully Specified Name (FSN)
Klasyfikacja
| Class: |
PLpatologia molekularna
ENMOLPATH
|
| Consumer Name: | - |
| Order/Observation: | Both |
| Panel Type: | - |
Informacje dodatkowe
| Units Required: | - |
| Example Units: | - |
| UCUM Units: | - |
| Version Last Changed: | 2.68 |
Definicja i opis
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.
Powiązane nazwy
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