44704-5
NEB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP36764-6 NEB gene
The NEB gene (nebulin) [HGNC Gene ID:7720] is located on chromosome 2q22. This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009] [NCBI Gene ID:4703]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- NEB gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- NEB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- NEB gene Mut Anl Bld/T
- Display Name
- NEB gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- NEB gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73 (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.; 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
- Common Test Rank Get Info
- 7554
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο NEB στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο NEB Εύρεση |
| es-ES | Spanish (Spain) | Gen NEB Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen NEB: |
| fr-FR | French (France) | NEB gène mutation cible trouvée: |
| it-IT | Italian (Italy) | NEB, gene analisi di mutazione mirata: Synonyms: Gene NEB Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | NEB-gen doelgerichte mutatie-analyse: Synonyms: molgen NEB gen targeted |
| pt-BR | Portuguese (Brazil) | NEB análise de mutação genética: Synonyms: NEM2; |
| ru-RU | Russian (Russian Federation) | NEB ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | NEB geni Mutasyon analizi: |
| zh-CN | Chinese (China) | NEB 基因 突变分析: Synonyms: DKFZp686C1456; |
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=44704-5
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://