Rekord LOINC: 81848-4

Tylko wersja angielska ACTIVE

Szczegóły rekordu LOINC

Informacje podstawowe

Kod LOINC:	`81848-4` 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 Bone marrow by Molecular genetics method
Short Name:	t(1;13)(p36;q14)+t(2;13)(q36;q14) Mar
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 : Bone mar : 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; BM; BON; Bone marrow; 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; MAR; Marrow (bone); minimal angle of resolution; Minimum angle of resolution; 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); translocation