Rekord LOINC: 81879-9

Tylko wersja angielska ACTIVE

Szczegóły rekordu LOINC

Informacje podstawowe

Kod LOINC:	`81879-9` FHIR
Long Common Name:	t(11;22)(q24;q12.2)(FLI1,EWSR1) and t(21;22)(q22.3;q12.2)(ERG,EWSR1) fusion transcript in Blood or Tissue by Molecular genetics method
Short Name:	EWSR1-FLI1 + EWSR1-ERG Bld/T
Status:	ACTIVE
Class Type:	1

Fully Specified Name (FSN)

EN Oryginalna wersja angielska

t(11;22)(q24;q12.2)(FLI1,EWSR1) & t(21;22)(q22.3;q12.2)(ERG,EWSR1) fusion transcript : Find : Pt : Bld/Tiss : Doc : Molgen

Klasyfikacja

Class:	ENMOLPATH.TRNLOC
Consumer Name:	-
Order/Observation:	Both
Panel Type:	-

Informacje dodatkowe

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UCUM Units:	-
Version Last Changed:	2.65

Definicja i opis

EN Rearrangements of the EWSR1 gene at 22q12 with FLI1 at 11q24 or ERG at 21q22 collectively occur in about 95% of Ewing sarcoma (EWS) and primitive neuroectodermal tumors (PNET), both types of small round-cell tumors. The fusion transcripts can be detected by various methods, including reverse transcriptase PCR and FISH. A positive result is consistent with a diagnosis of EWS/PNET. A negative result does not rule out the presence of fusion transcripts that may be present, but below the detection limit of an assay.

Powiązane nazwy

Blood; DNA; Document; Ewing sarcoma breakpoint region 1; Ewing sarcoma breakpoint region 2; EWS; EWSCR; EWSR1-FLI1 + EWSR1-ERG; EWSR2; Finding; Findings; Friend leukemia virus integration 1; gene fusion; gene translocation; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.TRANSLOCATION; PCR; Point in time; Random; RNA; SIC-1; T prime; t(11,22)(FLI1,EWSR1) gene translocation; t(11;22)(FLI1,EWSR1); t(21,22)(ERG,EWSR1) gene translocation; t(21;22)(ERG,EWSR1); Tissue; Tissue, unspecified; translocation; WB; Whole blood; Whole blood or Tissue