21672-1
F8 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19702-7 F8 gene
The F8 gene (coagulation factor VIII, procoagulant component) [HGNC Gene ID:3546] is located on chromosome Xq28. This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2157]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- F8 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- F8 gene Mut Anl Bld/T
- Display Name
- F8 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- F8 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
- 17377
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | análisis de mutación genética F8: |
| es-ES | Spanish (Spain) | Gen F8 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen F8: |
| fr-FR | French (France) | F8 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | F8, gene analisi di mutazione mirata: Synonyms: Gene F8 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | F8 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | F8-gen doelgerichte mutatie-analyse: Synonyms: f8 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | F8 análise de mutação genética: Synonyms: Hemophilia A; |
| ru-RU | Russian (Russian Federation) | F8 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | F8 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | F8 基因 突变分析: Synonyms: DXS1253E; |
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=21672-1
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