75385-5

DMD gene deletion and duplication mutation analysis in Blood or Tissue by MLPA

Active

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:Bld/Tiss:Doc:MLPA
Long Common Name: DMD gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
Short Name: DMD gene Del+Dup Bld/T MLPA
Display Name: DMD gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
Consumer Name Alpha Get Info: DMD gene deletion/duplication analysis, Blood or tissue specimen

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
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- 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

Tag	Language	Translation
ar-JO	Arabic (Jordan)	تحليل طفرات الحذف والتضاعف في جين DMD في عينات الدم أو الأنسجة ( بتقنية تضخيم المجسات المعتمد على الربط المتعدد )
cs-CZ	Czech (Czechia)	Gen DMD delece+duplikace:Nález:Časový bod:Krev/tkáň:Dokument:Multiplexní na ligaci závislá PCR reakce (MPLA)
el-GR	Greek (Greece)	Γονίδιο DMD διαγραφή+διπλασιασμός:Εύρεση:Pt:Αίμα/Ιστός:Doc:MLPA Synonyms: Doc MLPA MOLPATH MOLPATH.DEL Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο DMD διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Εύρεση Ιστός
es-ES	Spanish (Spain)	Gen de la Distrofia muscular (DMD) Delección+duplicación:Hallazgo:Punto temporal:Sangre o tejido:Doc:MLPA
es-MX	Spanish (Mexico)	Deleción + duplicación del gen DMD:Hallazgo:Punto temporal:Sangre o tejido:Documento:MLPA
fr-FR	French (France)	DMD gène délétion+duplication:Recherche:Ponctuel:Sang/Tissu:Document:MLPA
it-IT	Italian (Italy)	DMD, gene Delezione+duplicazione:Osservazione:Pt:Sangue/Tess:Doc:MLPA Synonyms: Amplificazione legatura-dipendente multipla della delezione e duplicazione Delezione genetica Gene DMD Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
pl-PL	Polish (Poland)	DMD gen delecja+duplikacja:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:MLPA Synonyms: Gen DMD
tr-TR	Turkish (Turkey)	DMD geni delesyon+duplikasyon:Bulgu:Zmlı:Kan/Dk:Dokm:MLPA Synonyms: çiftleme
zh-CN	Chinese (China)	DMD 基因缺失+重复:发现:时间点:全血/组织: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;临床医疗文书全血或组织;血液/组织;血液或组织分子病理学.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;瞬间未作说明的组织;组织;组织 & 涂片染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失血;血液遗传基因;遗传因子;吉恩;生物基因

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Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.