34499-4
GPC3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP31873-0 GPC3 gene
The GPC3 gene (glypican 3) [HGNC Gene ID:4451] is located on chromosome Xq26.1. Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] [NCBI Gene ID:2719]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- GPC3 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- GPC3 gene Mut Anl Bld/T
- Display Name
- GPC3 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- GPC3 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.10
- 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) | análisis de mutación genética de GPC3: |
| es-ES | Spanish (Spain) | Gen GPC3 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen GPC3: |
| fr-FR | French (France) | GPC3 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | GPC3, gene analisi di mutazione mirata: Synonyms: Gene GPC3 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | GPC3 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | GPC3-gen doelgerichte mutatie-analyse: Synonyms: GPC3 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | GPC3 análise de mutação genética: Synonyms: Glypican-3; |
| ru-RU | Russian (Russian Federation) | GPC3 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | GPC3 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | GPC3 基因 突变分析: Synonyms: DGSX; |
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=34499-4
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