21670-5
F7 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19700-1 F7 gene
The F7 gene (coagulation factor VII (serum prothrombin conversion accelerator)) [HGNC Gene ID:3544] is located on chromosome 13q34. This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] [NCBI Gene ID:2155]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- F7 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- F7 gene Mut Anl Bld/T
- Display Name
- F7 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- F7 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.63
- 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
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | análisis de la mutación del gen F7: |
| es-ES | Spanish (Spain) | Gen F7 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen F7: |
| fr-FR | French (France) | F7 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | F7, gene analisi di mutazione mirata: Synonyms: Gene F7 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | F7 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | F7-gen doelgerichte mutatie-analyse: Synonyms: f7 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | F7 análise de mutação genética: Synonyms: Coagulation factor VII gene; |
| ru-RU | Russian (Russian Federation) | F7 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | F7 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | F7 基因 突变分析: Synonyms: CF 基因 全血或组织; |
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=21670-5
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright