34698-1
CSTB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP32722-8 CSTB gene
The CSTB gene (cystatin B (stefin B)) [HGNC Gene ID:2482] is located on chromosome 21q22.3. The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). [provided by RefSeq, Jul 2008] [NCBI Gene ID:1476]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- CSTB gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- CSTB gene Mut Anl Bld/T
- Display Name
- CSTB gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- CSTB gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.11
- Last Updated
- Version 2.66
- 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-AR | Spanish (Argentina) | gen CSTB: |
| es-ES | Spanish (Spain) | Gen CSTB Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CSTB: |
| fr-FR | French (France) | CSTB gène mutation cible trouvée: |
| it-IT | Italian (Italy) | CSTB, gene analisi di mutazione mirata: Synonyms: Gene CSTB Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | CSTB 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | CSTB-gen doelgerichte mutatie-analyse: Synonyms: CSTB gen molgen targeted |
| pt-BR | Portuguese (Brazil) | CSTB análise de mutação genética: Synonyms: Cystatin B gene; |
| ru-RU | Russian (Russian Federation) | CSTB ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | CSTB geni Mutasyon analizi: |
| zh-CN | Chinese (China) | CSTB 基因 突变分析: Synonyms: CPI-B; |
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=34698-1
LOINC Copyright
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