t(11;22)(q24;q12.2)(FLI1,EWSR1) and t(21;22)(q22.3;q12.2)(ERG,EWSR1) fusion transcript in Blood or Tissue by Molecular genetics method   81879-9

LOINC Code


LOINC code81879-9
namet(11;22)(q24;q12.2)(FLI1,EWSR1) and t(21;22)(q22.3;q12.2)(ERG,EWSR1) fusion transcript in Blood or Tissue by Molecular genetics method
descriptionRearrangements of the EWSR1 gene at 22q12 with FLI1 at 11q24 or ERG at 21q22 collectively occur in about 95% of Ewing sarcoma (EWS) and primitive neuroectodermal tumors (PNET), both types of small round-cell tumors. The fusion transcripts can be detected by various methods, including reverse transcriptase PCR and FISH. A positive result is consistent with a diagnosis of EWS/PNET. A negative result does not rule out the presence of fusion transcripts that may be present, but below the detection limit of an assay.
statusACTIVE

Fully-Specified Name

componentt(11;22)(q24;q12.2)(FLI1,EWSR1) & t(21;22)(q22.3;q12.2)(ERG,EWSR1) 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 nameEWSR1-FLI1 + EWSR1-ERG 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

Related Names

Blood
DNA
Document
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 2
EWS
EWSCR
EWSR1-FLI1 + EWSR1-ERG
EWSR2
Finding
Findings
Friend leukemia virus integration 1
gene fusion
gene translocation
Genetics
Heredity
Heritable
Inherited
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.TRANSLOCATION
PCR
Point in time
Random
RNA
SIC-1
T prime
t(11,22)(FLI1,EWSR1) gene translocation
t(11
22)(FLI1,EWSR1)
t(21,22)(ERG,EWSR1) gene translocation
t(21
22)(ERG,EWSR1)
Tissue
Tissue, unspecified
translocation
WB
Whole blood
Whole blood or Tissue

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, 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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