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Term Description

Multigene analysis for inherited thrombocytopenia (IT), a group of hereditary disorders characterized by a reduced platelet count, abnormal platelet function, followed by impaired haemostasis. Over 40 genes have been known to cause different forms of inherited thrombocytopenia. However, the identification of the underlying causative gene in a patient is challenging given the high degree of heterogeneity. Testing does provide insight into the various clinical presentations and prognosis, where some defects can lead to hematological malignancies. PMID: 31275945

LOINC Names Get Info

Fully-Specified Name
Hereditary thrombocytopenia multigene analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
Hereditary thrombocytopenia multigene analysis in Blood or Tissue by Molecular genetics method
Short Name
IT multigene analysis Bld/T
Display Name
Hereditary thrombocytopenia multigene analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
Hereditary thrombocytopenia multigene analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    Hereditary thrombocytopenia multigene analysis
    LP431379-9
    • Analyte
      Hereditary thrombocytopenia multigene analysis
      LP431379-9
      • Component Numerator
        Hereditary thrombocytopenia multigene analysis
        LP431379-9
        • Component Numerator Core
          Hereditary thrombocytopenia multigene analysis
          LP431379-9
        • Component Numerator Core Suffix
          NULL
           
      • 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
Type
Laboratory
First Released
Version 2.72
Last Updated
Version 2.72 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Hereditární trombocytopenie multigenová analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Πολυγονιδιακή ανάλυση κληρονομικής θρομβοπενίας:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός Εύρεση Ιστός Μοριακή γενετική Πολυγονιδιακή ανάλυση κληρονομικής θρομβοπενίας
es-ESSpanish (Spain)Análisis multigénico de trombocitopenia hereditaria:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FRFrench (France)Analyse multigénique d'une thrombocytopénie héréditaire:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)Trombocitopenia ereditaria, analisi multigenica:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Analsisi multigenica trombocitopenia ereditaria Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)multigen-analyse op hereditaire trombocytopenie:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Analiza wielogenowa trombocytopenii dziedzicznej:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza wielogenowa w kierunku dziedzicznej małopłytkowości diagnostyka molekularna
zh-CNChinese (China)遗传性血小板减少症多基因分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: 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;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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传性血小板减少症（ITP、遗传性血小板减少）多基因分析

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