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Part Description

LP71404-5   ACVRL1 gene+ENG gene
The endoglin gene (ENG) and the activin A receptor, type II-like 1 gene (ACVRL1) are most commonly associated with hereditary hemorrhagic telangiectasia (HHT). Mutations in these genes occur in about 80% of individuals with HHT. ENG and ACVRL1 encode for membrane glycoproteins involved in transforming growth factor-beta signaling related to vascular integrity. Mutations in ENG are associated with HHT type 1 (HHT1), a condition with a higher incidence of pulmonary arteriovenous malformations, whereas ACVRL1 mutations occur in HHT type 2 (HHT2), a condition with a higher incidence of hepatic arteriovenous malformations. The majority of mutations in ENG and ACVRL1 are point mutations, which are identified by sequencing with a detection rate of approximately 60% to 80% of mutations involved in HHT. Approximately 10% of ENG and ACVRL1 mutations are large genomic deletions and duplications, which are detectable by methods such as multiplex ligation-dependent probe amplification (MLPA). Copyright Copyright © 1995-2009 Source: Mayo Medical Laboratories

LOINC Names Get Info

Fully-Specified Name
ACVRL1 gene+ENG gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
ACVRL1 gene+ENG gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
ACVRL1+ENG gene Mut Anl Bld/T
Display Name
ACVRL1 gene+ENG gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
ACVRL1 gene+ENG gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    ACVRL1 gene+ENG gene targeted mutation analysis
    LP227550-3
    • Analyte
      ACVRL1 gene+ENG gene targeted mutation analysis
      LP227550-3
      • Component Numerator
        ACVRL1 gene+ENG gene targeted mutation analysis
        LP227550-3
        • Component Numerator Core
          ACVRL1 gene+ENG gene
          LP71404-5
        • 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 2.26
Last Updated
Version 2.66 (MAJ)
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.; 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
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen ACVRL1+ENG cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο ACVRL1+γονίδιο ENG στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο ACVRL1 Γονίδιο ACVRL1+γονίδιο ENG Γονίδιο ENG Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen ACVRL1+Gen ENG Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen ACVRL1 + gen ENG:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)ACVRL1+ENG gènes mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)ACVRL1, gene+ENG, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene ACVRL1 Gene ACVRL1+Gene ENG Gene ENG Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)ACVRL1-gen + ENG-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: ACVRL1 gen ACVRL1 gen+ENG gen ENG gen molgen targeted
pl-PLPolish (Poland)ACVRL1 gen+ENG gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza mutacji genów ACVRL1 i ENG diagnostyka molekularna Gen ACVRL1 Gen ACVRL1 i gen ENG Gen ENG
pt-BRPortuguese (Brazil)ACVRL1 gene+ENG análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: CD105; ORW1; CD105 Ag; Osler-Rendu-Weber syndrome 1; ORWORW; END; Endoglin; ACVRL1+ENG gene; ACVRLK1; ALK1; ALK-1; HHT; HHT2; ORW2; SKR3; TSR-I; Activin receptor-like kinase 1; Osler-Rendu-Weber syndrome 2; Serine/threonine-protein kinase receptor R3 precursor; TGF-B superfamily receptor type I; activin A receptor type II-like 1; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)ACVRL1 ген+ENG 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)ACVRL1 geni+ENG geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)ACVRL1 基因+ENG 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: ACVRLK1;ALK1;ALK-1;Hereditary hemorrhagic telangiectasia;HHT;HHT2;ORW2;Osler-Rendu-Weber 综合征;Osler-Rendu-Weber 综合征 2;Rendu-Osler-Weber 综合征;R-O-W 综合征;SKR3;TGF-B 超家族受体 I 型;TSR-I;丝氨酸/苏氨酸-蛋白激酶受体 R3 前体;活化素 A II 型受体样 1;活化素受体样激酶 1;活素 A II 型受体样 1;活素受体样激酶 1;激活素 A CD105;END;HHT1;ORW;ORW1;FLJ41744;HHT1;CD105 antigen;CD105 抗原;OTTHUMP00000022221;endoglin;内皮糖蛋白;type I integral membrane glycoprotein;I 型膜内在蛋白质;zona pellucida (ZP) family of proteins;卵透明带蛋白家族;一种与增殖相关的缺氧诱导蛋白,又是转化生长因子-β(TGF-β)受体复合物之一,主要表达于新生血管内皮细胞.可以作为肿瘤诊断、转 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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=53837-1