AutoICD API

81848-4

Laboratory

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

Definition

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]

LOINC 6-Axis Classification

Component

t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript

Property

Find

Time Aspect

Pt

System

Bone mar

Scale Type

Doc

Method Type

Molgen

Details

Class

MOLPATH.TRNLOC

Order/Observation

Both

Short Name

t(1;13)(p36;q14)+t(2;13)(q36;q14) Mar

Display Name

t(1;13)(p36.13;q14.1)(PAX7,FOXO1) and t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript Molgen Doc (BM)

Related Names

13q14.11p36.13BMBONBone marrowDNADocumentFindingFindingsFKHFKH1FKHRForkhead box O1AForkhead in rhabdomyosarcomaFOXO1Agene fusiongene translocationGeneticsHeredityHeritableHup1iIIInheritedMARMarrow (bone)minimal angle of resolutionMinimum angle of resolutionMolecular geneticsMolecular pathologyMOLPATHMOLPATH.TRANSLOCATIONPaired box gene 3Paired box gene 7Paired box homeotic gene 3Paired box homeotic gene 7Paired domain gene HUP1PCRPoint in timeRandomRNAT primet(1,13)(PAX7,FKHR) gene translocationt(113)(p36q14)+t(213)(q36q14)t(113)(PAX7,FOXO1)t(2,13)(PAX3,FKHR) gene translocationt(213)(PAX3,FKHR)translocation

Frequently Asked Questions

What is LOINC code 81848-4?

LOINC code 81848-4 identifies "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". 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]

What does 81848-4 measure?

This code measures t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript in Bone mar. It belongs to the MOLPATH.TRNLOC class in the LOINC classification.

What is LOINC?

LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.