96973-3

CDH1 gene deletion and duplication mutation analysis [Identifier] in Blood or Tissue by Molecular genetics method Nominal

Active

Term Description

This term is used to report the specific CDH1 deletion/duplication found, or that no deletions/duplications were found. The LOINC term that represents the overall report for CDH1 deletion/duplication and full mutation analysis is LOINC 94240-9.

Part Description

LP19682-1 CDH1 gene
The CDH1 gene (cadherin 1, type 1, E-cadherin (epithelial)) [HGNC Gene ID:1748] is located on chromosome 16q22.1. This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. [provided by RefSeq, Jul 2008] [NCBI Gene ID:999] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name: CDH1 gene deletion+duplication:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name: CDH1 gene deletion and duplication mutation analysis [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name: CDH1 gene Del+Dup Bld/T
Display Name: CDH1 gene del and dup mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: CDH1 gene deletion/duplication analysis, Blood or tissue specimen

Part Model Get Info

Component
CDH1 gene deletion+duplication
LP427334-0
- Analyte
  CDH1 gene deletion+duplication
  LP427334-0
  - Component Numerator
    CDH1 gene deletion+duplication
    LP427334-0
    - Component Numerator Core
      CDH1 gene
      LP19682-1
    - Component Numerator Core Suffix
      deletion+duplication
      LP136317-7
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Prid
LP6850-4
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
Nom
LP7750-5
Method
Molgen
LP6404-0

Basic Attributes

Class: MOLPATH.DELDUP
Type: Laboratory
First Released: Version 2.70
Last Updated: Version 2.70 (ADD)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen CDH1 delece+duplikace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο CDH1 διαγραφή+διπλασιασμός:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.DELDUP Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CDH1 διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Ιστός Μοριακή γενετική
es-MX	Spanish (Mexico)	Deleción + duplicación del gen CDH1:Orgullo:Punto temporal:Bld / Tiss:Nominal:Molgen
es-ES	Spanish (Spain)	Gen CDH1 Delección+duplicación:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR	French (France)	CDH1 gène délétion+duplication:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	CDH1, gene Delezione+duplicazione:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: delezione e duplicazione Delezione o duplicazione genica Gene CDH1 Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	CDH1-gen deletie + duplicatie:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: CDH1 gen molgen
pl-PL	Polish (Poland)	CDH1 gen delecja+duplikacja:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna Synonyms: diagnostyka molekularna Gen CDH1 wynik kategorialny
ru-RU	Russian (Russian Federation)	CDH1 ген делеция+дупликация:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	CDH1 geni delesyon+duplikasyon:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen Synonyms: çiftleme
zh-CN	Chinese (China)	CDH1 基因缺失+重复:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法 Synonyms: CDHE;E-cadherin 基因;E-钙依赖性粘附蛋白基因;E-钙依赖性黏附蛋白基因;E-钙粘素基因;E-钙粘蛋白基因;E-钙粘连蛋白基因;E-钙粘附素基因;E-钙黏蛋白基因;UVO;Uvomorulin;上皮型钙粘蛋白;上皮型钙黏蛋白;上皮细胞型钙依赖性粘附蛋白;上皮细胞型钙依赖性粘附蛋白基因;桑椹胚粘着蛋白;桑椹胚黏着蛋白;钙依赖性粘附蛋白 1;钙粘素 1;钙粘连蛋白 1;钙粘附素 1 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;聚合酶链式反应分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答基因复制;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+重复存在;存在与否;特征标识;身份;身份标识时刻;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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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.