95277-0

GJB1 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method

Active

Part Description

LP32672-5 GJB1 gene
The GJB1 gene (gap junction protein, beta 1, 32kDa) [HGNC Gene ID:4283] is located on chromosome Xq13.1. This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008] [NCBI Gene ID:2705] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name: GJB1 gene deletion+duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name: GJB1 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Short Name: GJB1 gene Del+Dup + Full Mut Anl Bld/T
Display Name: GJB1 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: GJB1 gene variant analysis, Blood or tissue specimen

Part Model Get Info

Component
GJB1 gene deletion+duplication & full mutation analysis
LP418885-2
- Analyte
  GJB1 gene deletion+duplication & full mutation analysis
  LP418885-2
  - Component Numerator
    GJB1 gene deletion+duplication & full mutation analysis
    LP418885-2
    - Component Numerator Core
      GJB1 gene
      LP32672-5
    - 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
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
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.MUT
Type: Laboratory
First Released: Version 2.68
Last Updated: Version 2.68 (ADD)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen GJB1 delece+duplikace a kompletní mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο GJB1 ανάλυση διαγραφής+διπλασιασμού & πλήρους μετάλλαξης:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός ανάλυση διαγραφής+διπλασιασμού & πλήρους μετάλλαξης Γονίδιο Γονίδιο GJB1 διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Εύρεση Ιστός Μοριακή γενετική πλήρης ανάλυση μεταλλάξεων
es-ES	Spanish (Spain)	Gen GJB1 estudio delecion+duplicacion y estudio mutacional completo:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Deleción del gen GJB1 + duplicación y análisis de mutación completo:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	GJB1 gène délétion+duplication et analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	GJB1, gene Delezione+duplicazione & analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: delezione e duplicazione Gene GJB1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	GJB1-gen deletie + duplicatie & volledige mutatie analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: GJB1 gen molgen
pl-PL	Polish (Poland)	GJB1 gen delecja+duplikacja i pełna analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna Synonyms: diagnostyka molekularna Gen GJB1
tr-TR	Turkish (Turkey)	GJB1 geni delesyon+duplikasyon ve tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen Synonyms: çiftleme
zh-CN	Chinese (China)	GJB1 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: Charcot-Marie-Tooth 神经病, X 染色体连锁;Charcot-Marie-Tooth 神经病, X-连锁;CMTX;CMTX1;Connexin 32;Cx32;缝管连接蛋白 32;腓骨肌萎缩症, X 染色体连锁;腓骨肌萎缩症, X-连锁;连接蛋白 32;遗传性运动感觉神经病;间隙连接蛋白 32 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

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