Log In

Term Description

Full gene sequence analysis is performed to detect the presence of a mutation in all coding regions and intron/exon boundaries of the NPC1 and NPC2 genes. In addition, deletion/duplication analysis, such as by multiplex ligation-dependent probe amplification (MLPA), detects presence of large deletions or duplications in these genes. Testing is performed to diagnosis Niemann-Pick type C (NPC), an inherited disorder of cholesterol transport that results in a build up accumulation of cholesterol and glycosphingolipids in the endosomal/lysosomal system.[GHR gene:NPC1][GHR gene:NPC2]

Part Description

LP417412-6   NPC1 gene+NPC2 gene
The NPC1 gene+NPC2 gene (NPC intracellular cholesterol transporter 1) [HGNC Gene ID:7897] is located on chromosome 18q11.2. This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] [NCBI Gene ID:4864] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
NPC1 gene+NPC2 gene deletion+duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
NPC1 gene+NPC2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
NPC1+NPC2 Del+Dup + Full Mut Anl Bld/T
Display Name
NPC1 gene+NPC2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
NPC1 gene+NPC2 gene variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    NPC1 gene+NPC2 gene deletion+duplication & full mutation analysis
    LP417413-4
    • Analyte
      NPC1 gene+NPC2 gene deletion+duplication & full mutation analysis
      LP417413-4
      • Component Numerator
        NPC1 gene+NPC2 gene deletion+duplication & full mutation analysis
        LP417413-4
        • Component Numerator Core
          NPC1 gene+NPC2 gene
          LP417412-6
        • Component Numerator Core Suffix
          deletion+duplication & full mutation analysis
          LP200206-3
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

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

TagLanguageTranslation
cs-CZCzech (Czechia)Gen NPC1 gene+NPC2 delece+duplikace a kompletní mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο NPC1+γονίδιο NPC2 ανάλυση διαγραφής+διπλασιασμού & πλήρους μετάλλαξης:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός ανάλυση διαγραφής+διπλασιασμού & πλήρους μετάλλαξης Γονίδιο Γονίδιο NPC1 Γονίδιο NPC1+γονίδιο NPC2 διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Εύρεση Ιστός Μοριακή γενετική πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen NPC1+NPC2 estudio delecion+duplicacion y estudio mutacional completo:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Gen NPC1 + deleción del gen NPC2 + análisis de duplicación y mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)NPC1+NPC2 gènes délétion+duplication et analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)NPC1, gene+NPC2, gene Delezione+duplicazione & analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: delezione e duplicazione Gene NPC1 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)NPC1-gen + NPC2-gen deletie + duplicatie & volledige mutatie analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen NPC1 gen
pl-PLPolish (Poland)NPC1 gen+NPC2 gen delecja+duplikacja i pełna analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Gen NPC1 Geny NPC1 i NPC2
zh-CNChinese (China)NPC1 基因+NPC2 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: NPC1 蛋白;尼曼-皮克病, C1 型;尼-皮病, C1 型;C 型 1 类尼曼-匹克蛋白;C1 型尼曼-匹克蛋白;Niemann-Pick disease, type C1;NPC1 protein;NPC 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 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=94211-0