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Part Description

LP30749-3   BLM gene
The BLM gene (Bloom syndrome, RecQ helicase-like) [HGNC Gene ID:1058] is located on chromosome 15q26.1. The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008] [NCBI Gene ID:641] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

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

Part Model Get Info

  • Component
    BLM gene targeted mutation analysis
    LP227797-0
    • Analyte
      BLM gene targeted mutation analysis
      LP227797-0
      • Component Numerator
        BLM gene targeted mutation analysis
        LP227797-0
        • Component Numerator Core
          BLM gene
          LP30749-3
        • 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 2.19
Last Updated
Version 2.73 (MIN)
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
Both
Common Test Rank Get Info
14931

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen BLM cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο BLM στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο BLM Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen BLM Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen BLM:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)BLM gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)BLM, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene BLM Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)BLM-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: BLM gen molgen targeted
pl-PLPolish (Poland)BLM gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza mutacji genu BLM diagnostyka molekularna Gen BLM
pt-BRPortuguese (Brazil)BLM análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: Bloom syndrome; BS; RECQ2; RECQL3; 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)BLM 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)BLM geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
uk-UAUkrainian (Ukraine)BLM ген аналіз цільової мутації:Знахідка:МоментЧасу:Кров/Тканини:Документ:Молекулярна генетика
Synonyms: Blood; Bloom syndrome; Bloom syndrome, RecQ helicase-like; BS; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; Point in time; Random; RECQ2; RECQL2; RECQL3; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
zh-CNChinese (China)BLM 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: Bloom 综合征;BS;RECQ2;RECQL3;布伦氏症候群;布卢姆综合征;布卢姆综合征(特征为矮小,颧骨发育不良,面部毛细血管扩张性红斑);布鲁姆氏综合征;霜粉综合征;霜粉综合征(一种退化性的遗传性皮肤病；多见于东欧犹太人的后裔。患者身材矮小，对日光敏感，故面部常有微血管扩张性红斑) 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=46991-6