38904-9
MFN2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP34972-7 MFN2 gene
The MFN2 gene (mitofusin 2) [HGNC Gene ID:16877] is located on chromosome 1p36.22. This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] [NCBI Gene ID:9927]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MFN2 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- MFN2 gene Mut Anl Bld/T
- Display Name
- MFN2 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- MFN2 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- Last Updated
- Version 2.66
- 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.; 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 |
|---|---|---|
| es-ES | Spanish (Spain) | Gen MFN2 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen MFN2: |
| fr-FR | French (France) | MFN2 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | MFN2, gene analisi di mutazione mirata: Synonyms: Gene MFN2 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | MFN2 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | MFN2-gen doelgerichte mutatie-analyse: Synonyms: MFN2 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | MFN2 análise de mutação genética: Synonyms: Charcot-Marie Tooth disease, type 2A; |
| ru-RU | Russian (Russian Federation) | MFN2 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | MFN2 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | MF2 基因 突变分析: Synonyms: Charcot-Marie Tooth 病, 2A 型; |
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=38904-9
LOINC Copyright
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