Version 2.78

Part Description

LP64924-1   FH gene
The FH gene (complement factor H) [HGNC Gene ID:3700] is located on chromosome 1q32. This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011] [NCBI Gene ID:3075] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
FH gene deletion+duplication & full mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
FH gene Del+Dup + Full Mut Anl Bld/T
Display Name
FH gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
FH gene variant analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.74
Last Updated
Version 2.75
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen FH estudio delecion+duplicacion y estudio mutacional completo:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FR French (France) FH gène délétion+duplication et gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) FH, gene Delezione+duplicazione & analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: delezione e duplicazione Gene FH Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) FH-gen deletie + duplicatie & volledige mutatie analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: FH gen molgen
tr-TR Turkish (Turkey) FH geni delesyon+duplikasyon ve tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
Synonyms: çiftleme
zh-CN Chinese (China) FH 基因 缺失+重复与全面的突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
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 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 基因复制;基因重复;重复 基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复 完整突变分析;综合突变分析 富马酶基因;延胡索酸水化酶基因;延胡索酸水合酶基因;延胡索酸水合酶基因（Fumarate hydratase gene，FH Gene）;延胡酸酶基因 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复、重复基因、重复型基因、复制型基因）与全面的突变分析（突变全面分析、完整的突变分析、彻底的突变分析、全面型突变分析、全面式突变分析、突变全分析、突变彻底分析、全面突变分析） 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=101382-0