38920-5
MFN2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
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
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- MFN2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- MFN2 gene Mut Anl Bld/T
- Display Name
- MFN2 gene targeted mutation analysis Molgen Nom (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 2.63 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο MFN2 στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Prid Γονίδιο Γονίδιο MFN2 |
| 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 Patologia molecolare Presenza o Identità 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: Кровь Кровь или Ткань Номинальный; |
| 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
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=38920-5
LOINC Copyright
Copyright © 2025 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://