48729-8
CYBA gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP62888-0 CYBA gene
The CYBA gene (cytochrome b-245, alpha polypeptide) [HGNC Gene ID:2577] is located on chromosome 16q24. Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1535]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- CYBA gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- CYBA gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- CYBA gene Mut Anl Bld/T
- Display Name
- CYBA gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- CYBA gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.66 (MAJ)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο CYBA στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο CYBA Εύρεση |
| es-ES | Spanish (Spain) | Gen CYBA Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CYBA: |
| fr-FR | French (France) | CYBA gène mutation cible trouvée: |
| it-IT | Italian (Italy) | CYBA, gene analisi di mutazione mirata: Synonyms: Gene CYBA Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | CYBA-gen doelgerichte mutatie-analyse: Synonyms: CYBA gen molgen targeted |
| pt-BR | Portuguese (Brazil) | CYBA análise de mutação genética: Synonyms: Cytochrome b-245, alpha polypeptide gene; |
| ru-RU | Russian (Russian Federation) | CYBA ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | CYBA geni Mutasyon analizi: |
| zh-CN | Chinese (China) | CYBA 基因 突变分析: Synonyms: p22-phox; |
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=48729-8
LOINC Copyright
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