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Part Description

LP19502-1   DMD gene
The DMD gene (dystrophin) [HGNC Gene ID:2928] is located on chromosome Xp21.2. The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1756] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
DMD gene deletion+duplication:Find:Pt:Amnio fld/CVS:Doc:MLPA
Long Common Name
DMD gene deletion and duplication mutation analysis in Amniotic fluid or Chorionic villus sample by MLPA
Short Name
DMD gene Del+Dup Amn/CVS MLPA
Display Name
DMD gene del and dup mutation analysis MLPA Doc (Amnio fld/CVS)
Consumer Name Alpha Get Info
DMD gene deletion/duplication analysis, Amnio Fld/CVS

Part Model Get Info

  • Component
    DMD gene deletion+duplication
    LP228295-4
    • Analyte
      DMD gene deletion+duplication
      LP228295-4
      • Component Numerator
        DMD gene deletion+duplication
        LP228295-4
        • Component Numerator Core
          DMD gene
          LP19502-1
        • Component Numerator Core Suffix
          deletion+duplication
          LP136317-7
      • 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
    Amnio fld/CVS
    LP185743-4
    • System Core
      Amnio fld/CVS
      LP185743-4
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    MLPA
    LP147267-1

Basic Attributes

Class
MOLPATH.DEL
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.66 (MAJ)
Change Reason
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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen DMD delece+duplikace:Nález:Časový bod:Amniová tekutina/choriový klk:Dokument:Multiplexní na ligaci závislá PCR reakce (MPLA)
el-GRGreek (Greece)Γονίδιο DMD διαγραφή+διπλασιασμός:Εύρεση:Pt:Αμνιακό υγρό/ΕΝΥ:Doc:MLPA
Synonyms: Doc MLPA MOLPATH MOLPATH.DEL Pt Αμνιακό υγρό Αμνιακό υγρό/ΕΝΥ Βιοψία χοριακής λάχνης Γονίδιο Γονίδιο DMD διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Εύρεση
es-ESSpanish (Spain)Gen de la Distrofia muscular (DMD) Delección+duplicación:Hallazgo:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Doc:MLPA
es-MXSpanish (Mexico)Deleción + duplicación del gen DMD:Hallazgo:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Documento:MLPA
fr-FRFrench (France)DMD gène délétion+duplication:Recherche:Ponctuel:Liquide amniotique/Villosités choriales:Document:MLPA
it-ITItalian (Italy)DMD, gene Delezione+duplicazione:Osservazione:Pt:Liquido amniotico/Villi coriali, prelievo:Doc:MLPA
Synonyms: Amplificazione legatura-dipendente multipla della Campione di villi coriali delezione e duplicazione Delezione genetica Gene DMD Liquido amniotico Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio)
pl-PLPolish (Poland)DMD gen delecja+duplikacja:stwierdzenie:punkt w czasie:próbka płynu owodniowego lub kosmka kosmówki:dokument:MLPA
Synonyms: Gen DMD
tr-TRTurkish (Turkey)DMD geni delesyon+duplikasyon:Bulgu:Zmlı:Amnio sv/CVS:Dokm:MLPA
Synonyms: Amniyon mayii çiftleme
zh-CNChinese (China)DMD 基因 缺失+重复:发现:时间点:羊水/绒毛膜绒毛样本:文档型:多重连接探针扩增技术
Synonyms: BMD;DXS142;DXS164;DXS206;DXS230;DXS239;DXS268;DXS269;DXS270;DXS272;Dystrophin;假肥大性进行性肌肉萎缩;假肥大性进行性肌肉营养不良;抗肌肉萎缩蛋白;抗肌萎缩蛋白;抗肌萎缩蛋白(Dystrophin);抗肌营养不良蛋白;抗肌营养不良蛋白(Dystrophin);杜兴肌营养不良;肌肉萎缩症, Duchenne 与 Becker 型;肌肉营养不良症, Duchenne 与 Becker型;胞膜支架蛋白 Dystrophin multiplex ligation-dependent probe amplification;MLPA;多重连接探针扩增;多重连接酶依赖的探针扩增技术;多重连接依赖型探针扩增技术 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失 分子病理学;分子病理学试验 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 基因复制;基因重复;重复 基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复 时刻;随机;随意;瞬间 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本 羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS） 羊膜水;胎水 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75383-0