Version 2.80

Term Description

Full gene sequence analysis of the F2 gene to identify a pathogenic mutation associated with factor II (prothrombin) deficiency (F2D).[GHR gene: F2]

Part Descriptions

LP14459-9   F2 gene
Factor II DNA analysis: a point mutation (G20210A) in the Factor II (prothrombin) gene is the second most common cause of inherited thrombosis. The mutation substitutes a guanine with an adenine at nucleotide 20210. Up to 20% of inherited thrombophilia is due to this mutation. Incidence is 1-2% among Caucasians and 0.1% in African Americans. Heterozygous carriers of this mutation have prothrombin levels 30% higher than normal and have an associated 3-fold increased risk for venous thrombosis. The prothrombin is cleaved to thrombin which acts like a serine protease in the coagulation cascade. This results in the production of fibrin and promotes clotting activity. Mutation has also been reported in patients with idiopathic portal vein thrombosis, patients using oral contraceptives, and pregnant patients with placental abruptions and fetal growth restrictions. Up to 40% of patients with Factor II mutation also carry the Factor V Leiden mutation. Source: Regenstrief Institute

LP14459-9   F2 gene
The F2 gene (coagulation factor II (thrombin)) [HGNC Gene ID:3535] is located on chromosome 11p11. Coagulation factor II is proteolytically cleaved to form thrombin in the first step of the coagulation cascade which ultimately results in the stemming of blood loss. F2 also plays a role in maintaining vascular integrity during development and postnatal life. Finally, peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia. [provided by RefSeq, Nov 2014] [NCBI Gene ID:2147] Source: National Center for Biotechnology Information (NCBI) Gene

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

Fully-Specified Name

Component
F2 gene full mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Sequencing

Additional Names

Long Common Name
F2 gene full mutation analysis in Blood or Tissue by Sequencing
Short Name
F2 gene Full Mut Anl Bld/T Seq
Display Name
F2 gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
F2 gene variant analysis, Blood or tissue specimen

Basic Attributes

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

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο F2 πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Γονίδιο Γονίδιο F2 Εύρεση
es-ES Spanish (Spain) Gen F2 Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación completa del gen F2:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FR French (France) F2 gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-IT Italian (Italy) F2, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Gene F2 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) F2-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: f2 gen
tr-TR Turkish (Turkey) F2 geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) F2 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: 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 凝血因子 2 基因;凝血因子 II 基因;凝血因子Ⅱ基因;凝血酶原前体;凝血酶原基因 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=94237-5