Version 2.80

Term Description

This term is used for testing the presence of large genomic duplications and deletions within the LDLR gene to aid in the diagnosis of familial hypercholesterolemia (FH).

Part Description

LP95532-5   LDLR gene
The LDLR gene (low density lipoprotein receptor) [HGNC Gene ID:6547] is located on chromosome 19p13.2. The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] [NCBI Gene ID:3949] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
LDLR gene deletion+duplication
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
MLPA

Additional Names

Long Common Name
LDLR gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
Short Name
LDLR gene Del+Dup Bld/T MLPA
Display Name
LDLR gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
Consumer Name Alpha Get Info
LDLR gene deletion/duplication analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.40
Last Updated
Version 2.66 (MAJ)
Change Reason
Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο LDLR διαγραφή+διπλασιασμός:Εύρεση:Pt:Αίμα/Ιστός:Doc:MLPA
Synonyms: Γονίδιο Γονίδιο LDLR Εύρεση
es-ES Spanish (Spain) Gen LDLR Delección+duplicación:Hallazgo:Punto temporal:Sangre o tejido:Doc:MLPA
es-MX Spanish (Mexico) Deleción + duplicación del gen LDLR:Hallazgo:Punto temporal:Sangre o tejido:Documento:MLPA
fr-FR French (France) LDLR gène délétion+duplication:Recherche:Ponctuel:Sang/Tissu:Document:MLPA
it-IT Italian (Italy) LDLR, gene Delezione+duplicazione:Osservazione:Pt:Sangue/Tess:Doc:MLPA
Synonyms: Amplificazione legatura-dipendente multipla della delezione e duplicazione Gene LDLR Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
tr-TR Turkish (Turkey) LDLR geni delesyon+duplikasyon:Bulgu:Zmlı:Kan/Dk:Dokm:MLPA
zh-CN Chinese (China) LDLR 基因 缺失+重复:发现:时间点:全血/组织:文档型:多重连接探针扩增技术
Synonyms: FH;FHC;LDLCQ2;LDL receptor;low-density lipoprotein receptor class A domain-containing protein 3;low density lipoprotein receptor;LDL 受体;低密度脂蛋白受体A类结构域包含蛋白 3;低密度脂蛋白受体 multiplex ligation-dependent probe amplification;MLPA;多重连接探针扩增;多重连接酶依赖的探针扩增技术;多重连接依赖型探针扩增技术 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.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 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 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 血;血液 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
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