94240-9
CDH1 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Active
Term Description
Full gene sequence and deletion/duplication analysis of the CDH1 gene to identify a pathogenic alterations associated with hereditary diffuse gastric cancer.[GHR gene: CDH1]
Source: Regenstrief LOINC
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
Fully-Specified Name
- Component
- CDH1 gene deletion+duplication & full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- CDH1 gene Del+Dup + Full Mut Anl Bld/T
- Display Name
- CDH1 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- CDH1 gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen CDH1 estudio delecion+duplicacion y estudio mutacional completo: |
es-MX | Spanish (Mexico) | Eliminación del gen CDH1 + análisis de duplicación y mutación completa: |
fr-FR | French (France) | CDH1 gène délétion+duplication et analyse complète des mutations: |
it-IT | Italian (Italy) | CDH1, gene Delezione+duplicazione & analisi di mutazione completa: Synonyms: delezione e duplicazione Gene CDH1 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | CDH1-gen deletie + duplicatie & volledige mutatie analyse: Synonyms: CDH1 gen molgen |
tr-TR | Turkish (Turkey) | CDH1 geni delesyon+duplikasyon ve tam mutasyon analizi: Synonyms: çiftleme |
zh-CN | Chinese (China) | CDH1 基因 缺失+重复与全面的突变分析: Synonyms: CDHE; |
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