21667-1
F5 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19697-9 F5 gene
The F5 gene (coagulation factor V (proaccelerin, labile factor)) [HGNC Gene ID:3542] is located on chromosome 1q23. This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] [NCBI Gene ID:2153]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- F5 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- F5 gene Mut Anl Bld/T
- Display Name
- F5 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- F5 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.73
- 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.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 1488
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-DE | German (Germany) | F5-Gen zielgerichtete Mutationsanalyse: |
es-AR | Spanish (Argentina) | análisis de la mutación del gen F5: |
es-ES | Spanish (Spain) | Gen F5 Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen F5: |
fr-CA | French (Canada) | Gène F5 ciblé, analyse de la mutation: |
fr-FR | French (France) | F5 gène mutation cible trouvée: |
it-IT | Italian (Italy) | F5, gene analisi di mutazione mirata: Synonyms: Gene F5 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | F5 유전자 돌연변이 분석: |
nl-NL | Dutch (Netherlands) | F5-gen doelgerichte mutatie-analyse: Synonyms: f5 gen molgen targeted |
pt-BR | Portuguese (Brazil) | F5 análise de mutação genética: Synonyms: Coagulation Factor V - Leiden gene; |
ru-RU | Russian (Russian Federation) | F5 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | F5 geni Mutasyon analizi: |
zh-CN | Chinese (China) | F5 基因 突变分析: Synonyms: APC; |
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=21667-1
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright