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Part Description

LP62761-9   KCNQ1OT1 gene
The KCNQ1OT1 gene (KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)) [HGNC Gene ID:6295] is located on chromosome 11p15. Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. [provided by RefSeq, Apr 2012] [NCBI Gene ID:10984] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
KCNQ1OT1 gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
KCNQ1OT1 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
KCNQ1OT1 gene Mut Bld/T Mut Anl
Display Name
KCNQ1OT1 gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
KCNQ1OT1 gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    KCNQ1OT1 gene mutations
    LP452106-0
    • Analyte
      KCNQ1OT1 gene mutations
      LP452106-0
      • Component Numerator
        KCNQ1OT1 gene mutations
        LP452106-0
        • Component Numerator Core
          KCNQ1OT1 gene
          LP62761-9
        • Component Numerator Core Suffix
          mutations
          LP452208-4
      • 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
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.83 (NAM)
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen KCNQ1OT1 cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο KCNQ1OT1 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο KCNQ1OT1 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutación dirigida al gen KCNQ1OT1:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ESSpanish (Spain)Gen KCNQ10T1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)KCNQ1OT1 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)KCNQ1OT1, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene KCNQ1OT1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)KCNQ1OT1-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: KCNQ1OT1 gen molgen targeted
pl-PLPolish (Poland)KCNQ1OT1 gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu KCNQ1OT1 diagnostyka molekularna Gen KCNQ1OT1 wynik kategorialny
pt-BRPortuguese (Brazil)KCNQ1OT1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: KvDMR1; KvLQT1-AS; LIT1; KCNQ1 overlapping transcript 1; long QT intronic transcript 1; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)KCNQ1OT1 ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)KCNQ1OT1 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)KCNQ1OT1 基因 突变分析: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: KCNQ1 重叠转录本 1;KCNQ1 重叠转录本 1（KCNQ1 overlapping transcript 1）;KCNQ1 重叠转录物 1;KCNQ1 重叠转录物 1（KCNQ1 overlapping transcript 1）;KvDMR1;KvLQT1-AS;LIT1;长 QT 内含子转录本 1;长 QT 内含子转录本 1（long QT intronic transcript 1）;长 QT 内含子转录物 1;长 QT 内含子转录物 1（long QT intronic transcrip 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 基因突变分析 存在;存在与否;特征标识;身份;身份标识 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

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=48580-5