Version 2.77

Term Description

Full gene sequence analysis of the F12 gene to identify a pathogenic mutation associated with factor XII deficiency or hereditary angioedema with normal C1 inhibitor (FXII-HAE).[GHR gene: F12]
Source: Regenstrief LOINC

Part Descriptions

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

LP99579-2   F12 gene
The F12 gene (coagulation factor XII (Hageman factor)) [HGNC Gene ID:3530] is located on chromosome 5q35.3. This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2161] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
F12 gene full mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Sequencing

Additional Names

Short Name
F12 gene Full Mut Anl Bld/T Seq
Display Name
F12 gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
F12 gene variant analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen F12 Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación completa del gen F12:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FR French (France) F12 gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-IT Italian (Italy) F12, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Gene F12 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) F12-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: f12 gen
tr-TR Turkish (Turkey) F12 geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) F12 基因 全面突变分析:发现:时间点:全血/组织:文档型:序列测定
Synonyms: HAE3;HAEX;HAF;HAEX;HAF;Hageman factor;coagulation factor XII;coagulation factor XII (Hageman factor);哈格曼因子;凝血因子 XII;HF;接触因子 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 完整突变分析;综合突变分析 序列分析;测序 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94238-3