Version 2.77

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
Imp
Time
Pt
System
Bld/Tiss
Scale
Nar
Method
FISH

Additional Names

Short Name
MLL gene Rear Bld/T FISH-Imp
Display Name
MLL gene rearrangements FISH Nar (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Interpretation of MLL gene rearrangements test result, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.73
Change Reason
Changed Order_Obs from 'Observation Only' to 'Both' to fit current order use cases.
Order vs. Observation
Both
Common Test Rank Get Info
19836

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Reagrupamientos gen MLL:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Narrativo:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Reordenamientos del gen MLL:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Narrativo:Hibridación fluorescente in situ (FISH)
fr-FR French (France) MLL gène réarrangements:Interprétation:Ponctuel:Sang/Tissu:Résultat textuel:FISH
it-IT Italian (Italy) MLL, riarrangiamenti gene:Imp:Pt:Sangue/Tess:Nar:FISH
Synonyms: Gene MLL Ibridazione in situ fluorescente (FISH) Impressione/interpretazione di studio Patologia molecolare Punto nel tempo (episodio) Riarrangiamenti gene MLL Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) MLL genherschikking:interpretatie:moment:bloed of weefsel:tekstueel:FISH
Synonyms: MLL gen MLL gentranslocaties
tr-TR Turkish (Turkey) MLL geni yeniden düzenlemeler:İzlnm:Zmlı:Kan/Dk:Öykü:FISH
zh-CN Chinese (China) MLL 基因重排:印象:时间点:全血/组织:叙述型: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 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 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 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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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=78226-8