45332-4
NF2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method Nominal
Active
Part Description
LP36911-3 NF2 gene
The NF2 gene (neurofibromin 2 (merlin)) [HGNC Gene ID:7773] is located on chromosome 22q12.2. This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4771]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- NF2 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Amnio fld
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- NF2 gene Mut Anl Amn
- Display Name
- NF2 gene targeted mutation analysis Molgen Nom (Amn fld)
- Consumer Name Alpha Get Info
- NF2 gene targeted mutation analysis, Amniotic fluid
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.17
- 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
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54037-7 | HEDIS 2009 panel |
| 57820-3 | HEDIS 2010 panel |
| 60442-1 | HEDIS 2011 panel |
| 67767-4 | HEDIS 2012 panel |
| 72199-3 | HEDIS 2013 panel |
| 74234-6 | HEDIS 2014 Value Sets |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen NF2 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen NF2: |
| fr-FR | French (France) | NF2 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | NF2, gene analisi di mutazione mirata: Synonyms: Gene NF2 Genetica molecolare Liquido amniotico Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | NF2-gen doelgerichte mutatie-analyse: Synonyms: molgen NF2 gen targeted |
| pt-BR | Portuguese (Brazil) | NF2 análise de mutação genética: Synonyms: Neurofibromin 2; |
| ru-RU | Russian (Russian Federation) | NF2 ген исследование на мутацию: Synonyms: Амниотическая жидкость Номинальный; |
| tr-TR | Turkish (Turkey) | NF2 geni Mutasyon analizi: Synonyms: Amniyon mayii |
| zh-CN | Chinese (China) | NF2 基因 突变分析: Synonyms: ACN; |
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=45332-4
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