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Term Description

This test includes analysis of multiple genes associated with Ehlers-Danlos Syndrome by molecular genetic methods, such as next generation sequencing and deletion/duplication analysis. Targeted genes include, but are not limited to, ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, and PLOD1. Other labs test more (or fewer) genes. The overall report typically includes the gene evaluated, variant(s) detected, interpretation, test methodology, and recommendations. Mayo website now lists 12 genes (previously 11). The count will likely increase (one lab does 18).

LOINC Names Get Info

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

Part Model Get Info

  • Component
    Ehlers-Danlos syndrome multigene analysis
    LP410970-0
    • Analyte
      Ehlers-Danlos syndrome multigene analysis
      LP410970-0
      • Component Numerator
        Ehlers-Danlos syndrome multigene analysis
        LP410970-0
        • Component Numerator Core
          Ehlers-Danlos syndrome multigene analysis
          LP410970-0
        • 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 2.67
Last Updated
Version 2.67 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Ehlersův-Danlosův syndrom multigenová analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Πολυγονιδιακή ανάλυση συνδρόμου Ehlers-Danlos:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός Εύρεση Ιστός Μοριακή γενετική Πολυγονιδιακή ανάλυση συνδρόμου Ehlers-Danlos
es-ESSpanish (Spain)Análisis multigénico del síndrome de Ehlers-Danlos:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis multigénico del síndrome de Ehlers-Danlos:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)Analyse multigénique d'un syndrome d'Ehlers-Danlos:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)Sindrome di Ehlers-Danlos, analisi multigenica:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Analisi multigenica di sindrome di sindrome di Ehlers-Danlos Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)multigen-analyse op Ehlers-Danlos-syndroom:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: EDS molgen
pl-PLPolish (Poland)Analiza wielogenowa zespołu Ehlersa-Danlosa:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza wielogenowa w kierunku EDS diagnostyka molekularna
zh-CNChinese (China)埃勒斯-当洛斯综合征多基因分析: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 埃勒斯－当洛斯综合征（埃勒斯-当洛综合征、过度弹性皮肤综合征、埃勒斯当络斯综合征）多基因分析 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=93200-4