Rekord LOINC: 81849-2

Tylko wersja angielska ACTIVE

Szczegóły rekordu LOINC

Informacje podstawowe

Kod LOINC:	`81849-2` FHIR
Long Common Name:	t(1;13)(p36.13;q14.1)(PAX7,FOXO1) and t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript in Blood or Tissue by Molecular genetics method
Short Name:	t(1;13)(p36;q14)+t(2;13)(q36;q14) Bld/T
Status:	ACTIVE
Class Type:	1

Fully Specified Name (FSN)

EN Oryginalna wersja angielska

t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript : Find : Pt : Bld/Tiss : Doc : Molgen

Klasyfikacja

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

Informacje dodatkowe

Units Required:	-
Example Units:	-
UCUM Units:	-
Version Last Changed:	2.65

Definicja i opis

EN Most alveolar rhabdomyosarcoma (ARMS) cases contain one of two recurrent chromosomal translocations: t(2;13)(q35;q14)(PAX3,FOXO1) or t(1;13)(p36;q14)(PAX7,FOXO1).[PMID: 22710712] Genetic subtyping has identified PAX7-FOXO1, PAX3-FOXO1, and fusion-negative subsets of ARMS.[PMCID: PMC3564712]

Powiązane nazwy

13q14.1; 1p36.13; Blood; DNA; Document; Finding; Findings; FKH; FKH1; FKHR; Forkhead box O1A; Forkhead in rhabdomyosarcoma; FOXO1A; gene fusion; gene translocation; Genetics; Heredity; Heritable; Hup1; i; II; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.TRANSLOCATION; Paired box gene 3; Paired box gene 7; Paired box homeotic gene 3; Paired box homeotic gene 7; Paired domain gene HUP1; PCR; Point in time; Random; RNA; T prime; t(1,13)(PAX7,FKHR) gene translocation; t(1;13)(p36;q14)+t(2;13)(q36;q14); t(1;13)(PAX7,FOXO1); t(2,13)(PAX3,FKHR) gene translocation; t(2;13)(PAX3,FKHR); Tissue; Tissue, unspecified; translocation; WB; Whole blood; Whole blood or Tissue