21247-2
DMD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
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
Fully-Specified Name
- Component
- DMD gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DMD gene Mut Anl Bld/T
- Display Name
- DMD gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DMD gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.73
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 7877
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | análisis de mutación del gen DMD: |
| es-ES | Spanish (Spain) | Gen de la Distrofia muscular (DMD) Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen DMD: |
| fr-FR | French (France) | DMD gène mutation cible trouvée: |
| it-IT | Italian (Italy) | DMD, gene analisi di mutazione mirata: Synonyms: Gene DMD Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | DMD 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | DMD-gen doelgerichte mutatie-analyse: Synonyms: DMD gen molgen targeted |
| pt-BR | Portuguese (Brazil) | DMD análise de mutação genética: Synonyms: Muscular dystrophy, Duchenne and Becker types; |
| ru-RU | Russian (Russian Federation) | DMD ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | DMD geni Mutasyon analizi: |
| zh-CN | Chinese (China) | DMD 基因 突变分析: 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=21247-2
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