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{component}   LP432695-7

Laboratory   LP29693-6

Lab terms not yet categorized   LP248770-2

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   81849-2

LOINC Code


LOINC code81849-2
namet(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
descriptionMost 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]
statusACTIVE

Fully-Specified Name

componentt(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript
propertyFind  =  Finding
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short namet(1;13)(p36;q14)+t(2;13)(q36;q14) Bld/T

Basic Attributes

classMOLPATH.TRNLOC
type1  Laboratory
order vs. observationBoth

Ask At Order Entry

Ask at Order Entry (AOE) observations for a clinical observation or laboratory test. A LOINC term may represent a single AOE observation or a panel containing several AOE observations.

81247-9Master HL7 genetic variant reporting panel

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.65
last change typeMIN  - change to field other than name
change reasonUpdated the Property and Scale from dashes (-) to "Find" and "Doc" based on the current LOINC naming model for genetic test reports and to avoid confusion with how we define most panels (with dashes in the Property & Scale).

Related Names

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

Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2023, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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