AutoICD API

81849-2

Laboratory

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

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

Bld/Tiss

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) Bld/T

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 (Bld/Tiss)

Related Names

13q14.11p36.13BloodDNADocumentFindingFindingsFKHFKH1FKHRForkhead box O1AForkhead in rhabdomyosarcomaFOXO1Agene fusiongene translocationGeneticsHeredityHeritableHup1iIIInheritedMolecular 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)TissueTissue, unspecifiedtranslocationWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 81849-2?

LOINC code 81849-2 identifies "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". 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 81849-2 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 Bld/Tiss. 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.