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Term Description

This term is used for confirming a diagnosis of X-linked agammaglobulinemia (XLA) in males and identifying carrier females in families where a BTK mutation has been previously identified in affected individual. Mutation analysis only includes testing for the known familial mutation.

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 mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
BTK gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Short Name
BTK gene Fam Mut Anl Bld/T
Display Name
BTK gene familial mut analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
BTK gene familial variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    BTK gene mutation analysis limited to known familial mutations
    LP227841-6
    • Analyte
      BTK gene mutation analysis limited to known familial mutations
      LP227841-6
      • Component Numerator
        BTK gene mutation analysis limited to known familial mutations
        LP227841-6
        • Component Numerator Core
          BTK gene
          LP33144-4
        • Component Numerator Core Suffix
          mutation analysis limited to known familial mutations
          LP135775-7
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.40
Last Updated
Version 2.66 (MAJ)
Change Reason
Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen BTK mutační analýza omezená na známé familiární mutace:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο BTK ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις Γονίδιο Γονίδιο BTK Εύρεση Ιστός Μεταλλάξεις Μοριακή γενετική
es-ESSpanish (Spain)Gen BTK Análisis de mutaciones limitado al conocimiento de las mutaciones familiares:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutación del gen BTK limitado a mutaciones familiares conocidas:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)BTK gène mutation recherche limitée aux mutations familiales connues:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)BTK, gene, analisi di mutazione limitata a mutazioni familiari note:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene BTK Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)BTK-gen mutatieanalyse gelimiteerd tot bekende familiaire mutaties:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: BTK gen molgen
pl-PLPolish (Poland)BTK gen analiza mutacji ograniczona do znanych rodzinnie występujących mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Gen BTK
ru-RURussian (Russian Federation)BTK ген исследование на мутацию, ограниченный известными семейными мутациями:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)BTK geni mutasyon analizi, bilinen ailesel mutasyonlarla sınırlandırılmış:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)BTK 基因 局限于已知家族性突变的突变分析:发现:时间点:全血/组织:文档型: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 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 受限 受限的 局部的 局限于已知家族性突变的基因突变分析;仅限于已知家族性突变的突变分析 时刻;随机;随意;瞬间 有界的 有限 有限的 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 被限制的 遗传基因;遗传因子;吉恩;生物基因 限制的

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https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=69479-4