48969-0
DCX gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP63481-3 DCX gene
The DCX gene (doublecortin) [HGNC Gene ID:2714] is located on chromosome Xq22.3-q23. This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, mental retardation, subcortical band heterotopia ("double cortex" syndrome) in females and lissencephaly ("smooth brain" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] [NCBI Gene ID:1641]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- DCX gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- DCX gene Mut Anl Bld/T
- Display Name
- DCX gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- DCX gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.68
- 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 DCX Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen DCX: |
fr-FR | French (France) | DCX gène mutation cible trouvée: |
it-IT | Italian (Italy) | DCX, gene analisi di mutazione mirata: Synonyms: Gene DCX Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | DCX-gen doelgerichte mutatie-analyse: Synonyms: DCX gen molgen targeted |
pt-BR | Portuguese (Brazil) | DCX análise de mutação genética: Synonyms: DBCN; |
ru-RU | Russian (Russian Federation) | DCX ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | DCX geni Mutasyon analizi: |
zh-CN | Chinese (China) | DCX 基因 突变分析: Synonyms: DBCN; |
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=48969-0
LOINC Copyright
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