22075-6
DMD gene mutations tested for 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 mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DMD gene Mut Tested Bld/T
- Display Name
- DMD gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DMD gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0n
- Last Updated
- Version 2.13
- Order vs. Observation
- Observation
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | determinación de las mutaciones del gen DMD: |
| es-ES | Spanish (Spain) | Gen de la Distrofia muscular (DMD) Análisis de mutaciones para...: |
| es-MX | Spanish (Mexico) | Mutaciones del gen DMD analizadas para: |
| fr-FR | French (France) | DMD gène mutations recherchées: |
| it-IT | Italian (Italy) | DMD, gene, mutazioni testate per: 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 분석용: |
| nl-NL | Dutch (Netherlands) | DMD-gen geteste mutaties: Synonyms: DMD gen molgen |
| pt-BR | Portuguese (Brazil) | DMD teste para mutação do gene: Synonyms: Muscular dystrophy, Duchenne and Becker types; |
| ru-RU | Russian (Russian Federation) | DMD ген мутации тестирован на: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | DMD geni mutasyonlar, test edilen: |
| zh-CN | Chinese (China) | DMD 基因 已测试的突变: Synonyms: BMD; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=22075-6
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright