Version 2.80

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.

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] Source: National Center for Biotechnology Information (NCBI) Gene

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

Long Common Name
MLL gene rearrangements [Presence] in Blood or Tissue by FISH
Short Name
MLL gene Rear Bld/T Ql FISH
Display Name
MLL gene rearrangements FISH Ql (Bld/Tiss)
Consumer Name Alpha Get Info
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 (MIN)
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

Tag Language Translation
el-GR Greek (Greece) Γονιδιακές αναδιατάξεις MLL:PrThr:Pt:Αίμα/Ιστός:Ord:Φθορίζουσα υβριδοποίηση in situ
Synonyms: PrThr Γονιδιακές αναδιατάξεις MLL Γονίδιο Γονίδιο MLL
es-ES Spanish (Spain) Reagrupamientos gen MLL:PrThr:Punto temporal:Sangre o tejido:Ord:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Reordenamientos del gen MLL:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Hibridación fluorescente in situ (FISH)
et-EE Estonian (Estonia) MLL geeni muudatused:PrThr:Pt:B/Tis:Ord:FISH
Synonyms: Järgarvuline Juhuslik Kude Veri Veri või koematerjal
fr-FR French (France) MLL gène réarrangements:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:FISH
it-IT Italian (Italy) MLL, riarrangiamenti gene:PrThr:Pt:Sangue/Tess:Ord:FISH
Synonyms: Gene MLL Ibridazione in situ fluorescente (FISH) Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Riarrangiamenti gene MLL Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) MLL genherschikking:aanwezigheid:moment:bloed of weefsel:ordinaal:FISH
Synonyms: MLL gen MLL gentranslocaties
tr-TR Turkish (Turkey) MLL geni yeniden düzenlemeler:MevcEşik:Zmlı:Kan/Dk:Srl:FISH
Synonyms: Mevcut
zh-CN Chinese (China) MLL 基因重排:存在情况或阈值:时间点:全血/组织:序数型:FISH
Synonyms: ALL1 ALL-1 ALL-1;CXXC7;FLJ11783;HRX;HTRX1;KMT2A;MLL/GAS7;MLL1A;TET1-MLL;TRX1;myeloid/lymphoid or mixed lineage leukemia;Mixed Lineage Leukemia;混合谱系白血病;myeloid/lymphoid lineage leukemia;髓性白血病;髓系/淋巴系白血病 Fluorescent in situ hybridization;荧光原位杂交 HRX HTRX HTRX1 MLL 基因重排（重组）;MLL;ALL-1;CXXC7;FLJ11783;HRX;HTRX1;KMT2A;MLL/GAS7;MLL1A;TET1-MLL;TRX1;myeloid/lymphoid or mixed lineage leukemia;Mixed Lineage Leukemia;混合谱系白血病;myeloid/lymphoid lineage leukemia;髓性白血病;髓系/淋巴系白血病 TRX1 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学.基因重排;分子病理学.重排;分子病理学试验.基因重排;分子病理学试验.重排;分子病理学试验类.重排;基因重排;重排 分子病理学;分子病理学试验 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因 髓/淋巴混合系白血病 (三胸(果蝇)同源基因) 髓/淋系或混合型白血病 (三胸(果蝇)同源基因) 髓/淋系或混合性白血病 (三胸(果蝇)同源基因) 髓/淋系或混合系白血病 (三胸(果蝇)同源基因) 髓系/淋巴样或混合型白血病 (三胸(果蝇)同源基因) 髓系/淋巴样或混合性白血病 (三胸(果蝇)同源基因) 髓系/淋巴样或混合系白血病 (三胸(果蝇)同源基因) 髓系/淋巴系或混合型白血病 (三胸(果蝇)同源基因) 髓系/淋巴系或混合性白血病 (三胸(果蝇)同源基因) 髓系/淋巴系或混合系白血病 (三胸(果蝇)同源基因) 髓系/淋巴系或混合系白血病 (三胸(果蝇)同源基因) （Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)） 髓系/淋巴细胞性或混合型白血病 (三胸(果蝇)同源基因) 髓系/淋巴细胞性或混合性白血病 (三胸(果蝇)同源基因) 髓系/淋巴细胞性或混合系白血病 (三胸(果蝇)同源基因) 髓系/淋巴细胞或混合型白血病 (三胸(果蝇)同源基因) 髓系/淋巴细胞或混合性白血病 (三胸(果蝇)同源基因) 髓系/淋巴细胞或混合系白血病 (三胸(果蝇)同源基因) 髓系/淋系或混合型白血病 (三胸(果蝇)同源基因) 髓系/淋系或混合性白血病 (三胸(果蝇)同源基因) 髓系/淋系或混合系白血病 (三胸(果蝇)同源基因)

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