LOINC
Version 2.72

78219-3MLL gene rearrangements [Presence] in Blood or Tissue by FISHActive

Term Description

This term was created for, but is not limited in use to, the Vysis LSI MLL Dual Color, Break Apart Rearrangement Probe Kit, intended for use in identifying MLL gene arrangements on chromosome region 11q23.
Source: Regenstrief LOINC

Part Descriptions

LP33228-5   MLL gene rearrangements
The MLL gene (lysine (K)-specific methyltransferase 2A) [HGNC Gene ID:7132] is located on chromosome 11q23. This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] [NCBI Gene ID:4297] Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: National Center for Biotechnology Information (NCBI) Gene, FISH

LP62864-1   FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, FISH

Fully-Specified Name

Component
MLL gene rearrangements
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
FISH

Additional Names

Short Name
MLL gene Rear Bld/T Ql FISH
Display Name
MLL gene rearrangements FISH Ql (Bld/Tiss)
Consumer Name Alpha
MLL gene rearrangements, Blood or tissue specimen

Example Answer List LL744-4

Source: Regenstrief Institute

Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.61
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both

Language Variants Get Info

zh-CNChinese (China)
MLL 基因重排:存在情况或阈值:时间点:全血/组织:序数型:FISH
nl-NLDutch (Netherlands)
MLL gentranslocaties:aanwezigheid:moment:bloed of weefsel:ordinaal:FISH
et-EEEstonian (Estonia)
MLL geeni muudatused:PrThr:Pt:B/Tis:Ord:FISH
fr-FRFrench (France)
MLL gène réarrangements:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:FISH
it-ITItalian (Italy)
MLL, riarrangiamenti gene:PrThr:Pt:Sangue/Tess:Ord:FISH
es-MXSpanish (Mexico)
Reordenamientos del gen MLL:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Hibridación fluorescente in situ (FISH)
es-ESSpanish (Spain)
Reagrupamientos gen MLL:PrThr:Punto temporal:Sangre o tejido:Ord:Hibridación in situ fluoresente (FISH)
tr-TRTurkish (Turkey)
MLL geni yeniden düzenlemeler:MevcEşik:Zmlı:Kan/Dk:Srl:FISH

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=78219-3