75385-5
DMD gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
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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
Fully-Specified Name
- Component
- DMD gene deletion+duplication
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- MLPA
Additional Names
- 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
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 |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο DMD διαγραφή+διπλασιασμός: Synonyms: Γονίδιο Γονίδιο DMD Εύρεση |
| es-ES | Spanish (Spain) | Gen de la Distrofia muscular (DMD) Delección+duplicación: |
| es-MX | Spanish (Mexico) | Deleción + duplicación del gen DMD: |
| fr-FR | French (France) | DMD gène délétion+duplication: |
| it-IT | Italian (Italy) | DMD, gene Delezione+duplicazione: 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 & |
| tr-TR | Turkish (Turkey) | DMD geni delesyon+duplikasyon: |
| zh-CN | Chinese (China) | DMD 基因 缺失+重复: Synonyms: BMD; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=75385-5
LOINC Copyright
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