38905-6

MLL gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal

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Part Description

LP35654-0 MLL gene
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

LOINC Names Get Info

Fully-Specified Name: MLL gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name: MLL gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name: MLL gene Mut Tested Bld/T
Display Name: MLL gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: MLL gene variants tested for, Blood or tissue specimen

Part Model Get Info

Component
MLL gene mutations tested for
LP229010-6
- Analyte
  MLL gene mutations tested for
  LP229010-6
  - Component Numerator
    MLL gene mutations tested for
    LP229010-6
    - Component Numerator Core
      MLL gene
      LP35654-0
    - Component Numerator Core Suffix
      mutations tested for
      LP32421-7
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Prid
LP6850-4
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Nom
LP7750-5
Method
Molgen
LP6404-0

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.15
Last Updated: Version 2.15 (MIN)
Order vs. Observation: Observation

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen MLL testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο MLL εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο MLL εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ES	Spanish (Spain)	Gen MLL Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Mutaciones del gen MLL analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	MLL gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	MLL, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene MLL Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KR	Korean (Korea, Republic Of)	MLH1 유전자 돌연변이 분석용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	MLL-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: MLL gen molgen
pl-PL	Polish (Poland)	MLL gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna Synonyms: diagnostyka molekularna Gen MLL wynik kategorialny
pt-BR	Portuguese (Brazil)	MLL teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; HRX; ALL1; myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); ALL-1; HTRX; HTRX1; TRX1; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	MLL ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	MLL geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	MLL 基因已测试的突变:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法 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 HRX HTRX HTRX1 TRX1 全血或组织;血液/组织;血液或组织分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变分子病理学;分子病理学试验分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答存在;存在与否;特征标识;身份;身份标识已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片突变突变类;基因突变血;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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Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 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.