Version 2.80

Term Description

This test detects pathogenic alterations within the FGA, FGB, and FGG genes to delineate the underlying molecular defect in a patient with a laboratory diagnosis of congenital afibrinogenemia/hypofibrinogenemia or dysfibrinogenemia/hypodysfibrinogenemia.

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

LP344995-8   FGA gene & FGB gene & FGG gene
The FGA, FGB and FGG genes encode the 3 distinct protein subunits of fibrinogen, which has a well-established role in formation of the fibrin matrix of blood clots after proteolysis by factor IIa. Mutations resulting in fibrinogen disorders can be either quantitative (afibrinogenemia or hypofibrinogenemia) or functional (dysfibrinogenemia), and can affect any of the 3 subunits. Clinical severity can be highly variable, manifested as bleeding of the CNS GI, GU, skin, or umbilical cord neonatally. Not surprisingly, those with the lowest levels (below 0.5 g/L) are associated with more severe bleeding. Those with dysfibrinogenemia can have either bleeding or thromboembolic complications. PMID: 29844251 Source: Regenstrief LOINC

Fully-Specified Name

Component
FGA gene & FGB gene & FGG gene full mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Sequencing

Additional Names

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

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.66
Last Updated
Version 2.66 (ADD)
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο FGA & γονίδιο FGB & γονίδιο FGG πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Γονίδιο Γονίδιο FGA Γονίδιο FGA & γονίδιο FGB & γονίδιο FGG Γονίδιο FGB Εύρεση
es-ES Spanish (Spain) Genes FGA, FGB, y FGG Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MX Spanish (Mexico) Gen FGA y gen FGB y análisis de mutación completo del gen FGG:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FR French (France) FGA et FGB et FGG gènes analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-IT Italian (Italy) FGA, gene & FGB, gene & FGG, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Gene FGB Geni FGA, FGB, e FGG Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) FGA-gen & FGB-gen & FGG-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: FGB gen
zh-CN Chinese (China) FGA 基因 & FGB 基因 & FGG 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: MGC104327;MGC120405;fibrinogen, B beta polypeptide;fibrinogen, beta chain;纤维蛋白原, B beta 多肽;纤维蛋白原, beta 链;纤维蛋白原, B β多肽;纤维蛋白原, β链 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 纤维蛋白原α链基因;纤维蛋白原 Alpha 链基因;Fibrinogen Alpha Chain gene 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=92992-7