41105-8
FSHD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP33173-3 FSHD gene
The FSHD gene (facioscapulohumeral muscular dystrophy 1A) gene is located on chromosome 4q35. Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary disease of muscle. Patients with FSHD have a chromosomal rearrangement within the subtelomeric region of chromosome 4 (4q35). This region is composed mainly of a polymorphic repeat structure consisting of 3.3 kb repeat units, designated D4Z4. The number of repeat units varies from 10 to more than 100 in the population, however, in FSHD patients only 1-10 repeat units is observed because of a deletion of an integral number of these units. FSHD is caused by an epigenetic mechanism involving the contraction of a subtelomeric macrosatellite repeat, which results in marked hypomethylation of the contracted D4Z4 allele. It is likely not the structure, but the deregulation of transcription of one or more genes as a result of repeat-contraction-mediated chromatin alterations, that causes FSHD. [provided by RefSeq, Sep 2011] [NCBI Gene ID:2489]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FSHD gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- FSHD gene Mut Anl Bld/T
- Display Name
- FSHD gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- FSHD gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- Last Updated
- Version 2.63
- 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
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen FSHD Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen FSHD: |
| fr-FR | French (France) | FSHD gène mutation cible trouvée: |
| it-IT | Italian (Italy) | FSHD, gene analisi di mutazione mirata: Synonyms: Gene FSHD Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | FSHD 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | FSHD-gen doelgerichte mutatie-analyse: Synonyms: FSHD gen molgen targeted |
| pt-BR | Portuguese (Brazil) | FSHD análise de mutação genética: Synonyms: Facioscapulohumeral muscular dystrophy; |
| ru-RU | Russian (Russian Federation) | FSHD ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | FSHD geni Mutasyon analizi: |
| zh-CN | Chinese (China) | FSHD 基因 突变分析: Synonyms: Landouzy Dejerine 肌肉萎缩症; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
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