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Term Description

ABCB1 (MDR1) gene mutation analysis is performed on patients who present with ineffectiveness or toxicity to certain drugs (protein MDR1 substrates). The patient's genotype is used to predict expression and activity of MDR1 enzymes (that regulate the transport of many drugs) and to determine appropriate treatment and drug dosage.

Part Descriptions

LP156997-1   ABCB1 gene
ABCB1 (also known as MDR1) is one of many ubiquitous adenosine triphosphate (ATP)-binding cassette (ABC) genes. ABCB1 encodes a transmembrane transporter, P-glycoprotein (P-gp), and plays a role in cell defense against environmental attacks. Many polymorphisms have been reported in this gene, including 1236C>T (rs1128503) in exon 12, 2677G>T (rs2032582) in exon 21 and 3435C>T (rs1045642) in exon 26. The 2677G>T variant is associated with a 2.6 fold higher risk of developing lung cancer. Individuals homozygous for the 2677G>T variant and heterozygous for the 3435C>T variant have up to a 20 fold higher risk of developing lung cancer. Source: Regenstrief LOINC, PMID: 17120199

LP156997-1   ABCB1 gene
The ABCB1 gene (ATP-binding cassette, sub-family B (MDR/TAP), member 1) [HGNC Gene ID:40] is located on chromosome 7q21.12. The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5243] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
ABCB1 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
ABCB1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
ABCB1 Mut Anl Bld/T
Display Name
ABCB1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
ABCB1 gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    ABCB1 gene targeted mutation analysis
    LP227518-0
    • Analyte
      ABCB1 gene targeted mutation analysis
      LP227518-0
      • Component Numerator
        ABCB1 gene targeted mutation analysis
        LP227518-0
        • Component Numerator Core
          ABCB1 gene
          LP156997-1
        • Component Numerator Core Suffix
          targeted mutation analysis
          LP32419-1
      • 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 2.66
Last Updated
Version 2.66 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen ABCB1 cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο ABCB1 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο ABCB1 Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen ABCB1 (MDR1) Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen ABCB1:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)ABCB1 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)ABCB1, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene ABCB1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)ABCB1-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen targeted
pl-PLPolish (Poland)ABCB1 gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza mutacji genu ABCB1 diagnostyka molekularna Gen ABCB1
ru-RURussian (Russian Federation)ABCB1 ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)ABCB1 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)ABCB1 基因 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: P-gp;CD243;GP170;ABC20;ATP-binding cassette, sub-family B (MDR/TAP), member 1;ATP-结合盒, 子家族 B (MDR/TAP), 成员 1;NCBI NM_000927 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 基因突变分析 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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