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Part Descriptions

LP33144-4   BTK gene
The BTK gene (Bruton agammaglobulinemia tyrosine kinase) [HGNC Gene ID:1133] is located on chromosome Xq21.33-q22. The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] [NCBI Gene ID:695] Source: National Center for Biotechnology Information (NCBI) Gene

LP33144-4   BTK gene
Patients with chronic lymphocytic leukemia (CLL) with disease progression treated with ibrutinib has been attributed to histologic transformation or acquired mutations in BTK and PLCG2 genes. PMID: 28049639 Source: PubMed Central

LOINC Names Get Info

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

Part Model Get Info

  • Component
    BTK gene mutations
    LP451959-3
    • Analyte
      BTK gene mutations
      LP451959-3
      • Component Numerator
        BTK gene mutations
        LP451959-3
      • 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 2.13
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
Common Test Rank Get Info
11573

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen BTK cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο BTK στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο BTK Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ARSpanish (Argentina)gen BTK:presencia o identidad:punto en el tiempo:tejido, no especificado:Nominal:genética molecular
es-ESSpanish (Spain)Gen BTK Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen BTK:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)BTK gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)BTK, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene BTK Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)BTK 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)BTK-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: BTK gen molgen targeted
pl-PLPolish (Poland)BTK gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu BTK diagnostyka molekularna Gen BTK wynik kategorialny
pt-BRPortuguese (Brazil)BTK análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: AGMX1; AT; ATK; BPK; IMD1; PSCTK1; XLA; Bruton agammaglobulinemia tyrosine kinase gene; Tyrosine-protein kinase gene; Bruton's tyrosine kinase gene; Agammaglobulinaemia tyrosine kinase gene; B cell progenitor kinase gene; 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)BTK 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)BTK geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)BTK 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: AGMX1;AT;ATK;B 细胞祖细胞激酶基因（B cell progenitor kinase gene）;BPK;Bruton Gamma 球蛋白缺乏症酪氨酸激酶基因;Bruton γ球蛋白缺乏症酪氨酸激酶基因;Bruton 丙种球蛋白缺乏症酪氨酸激酶基因;Bruton 氏酪氨酸激酶基因;Bruton 酪氨酸激酶基因;Gamma 球蛋白缺乏症酪氨酸激酶基因;IMD1;PSCTK1;XLA;γ球蛋白缺乏症酪氨酸激酶基因;丙种球蛋白缺乏症酪氨酸激酶基因;酪氨酸蛋白激酶基因;酪氨酸-蛋白激酶基因 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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