38534-4
COL5A1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP34681-4 COL5A1 gene
The COL5A1 gene (collagen, type V, alpha 1) [HGNC Gene ID:2209] is located on chromosome 9q34.2-q34.3. This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] [NCBI Gene ID:1289]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- COL5A1 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- COL5A1 gene Mut Anl Bld/T
- Display Name
- COL5A1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- COL5A1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.14
- 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 COL5A1: |
| es-ES | Spanish (Spain) | Gen COL5A1 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen COL5A1: |
| fr-FR | French (France) | COL5A1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | COL5A1, gene analisi di mutazione mirata: Synonyms: Gene COL5A1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | COL5A1 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | COL5A1-gen doelgerichte mutatie-analyse: Synonyms: COL5A1 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | COL5A1 análise de mutação genética: Synonyms: Collagen, type V, alpha 1 gene; |
| ru-RU | Russian (Russian Federation) | COL5A1 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | COL5A1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | COL5A1 基因 突变分析: Synonyms: 临床文档型; |
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=38534-4
LOINC Copyright
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