90743-6
CYBB gene full and NCF1 gene c.75_76delGT analysis in Blood or Tissue by Molecular genetics method
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Part Descriptions
LP269260-8 CYBB gene full & NCF1 gene c.75_76delGT analysis
NCF1 gene encodes the neutrophil cytosolic factor 1 (NCF1) protein. NCF1 is a subunit of a group of proteins that comprise the enzyme NADPH oxidase. NADPH plays an important role in regulating neutrophil activity and in helping phagocytes neutralize bacteria and fungi. In addition, NADPH helps moderate the inflammatory response that may otherwise cause excessive damage to the body. When microorganisms infect the body, they stimulate phagocytes to assemble NADPH oxidase, which is critical to the chemical reaction that converts oxygen to a superoxide. The superoxide is instrumental in producing antibiotic chemicals including hydrogen peroxide and hypochlorous acid. Mutations in the NCF1 gene affect NCF1 protein production and/or function, which prevents the assembly and function of NADPH. Twenty-five percent patients with chronic granulomatous disease have mutations in the NCF1 gene, and NCF1 deletions are associated with Williams syndrom. [MedlinePlus Gene: NCF1]
Source: Regenstrief LOINC
LP269260-8 CYBB gene full & NCF1 gene c.75_76delGT analysis
The CYBB gene (cytochrome b-245, beta polypeptide) [HGNC Gene ID:2578] is located on chromosome Xp21.1. Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1536]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- CYBB gene full & NCF1 gene c.75_76delGT analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- CYBB full + NCF1 c.75_76delGT Bld/T
- Display Name
- CYBB gene full & NCF1 gene c.75_76delGT analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- CYBB gene Full & NCF1 gene C.75_76delGT Analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.65
- Last Updated
- Version 2.65
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Análisis del gen completo CYBB y de la delección c.75_76delGT del gen NCF1: |
| es-MX | Spanish (Mexico) | Análisis completo del gen CYBB y gen NCF1 c.75_76delGT: |
| fr-FR | French (France) | CYBB gène complet et NCF1 gène c.75_76delGT étude: |
| it-IT | Italian (Italy) | Gene completo CYBB & gene NCF1 c.75_76delGT, analisi: Synonyms: Analisi gene completo CYBB e gene NCF1 c.75_76delGT Gene CYBB Gene NCF1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| zh-CN | Chinese (China) | CYBB 基因全面分析与 NCF1 基因 c.75_76delGT 分析: Synonyms: C 型; |
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=90743-6
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