Version 2.77

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 APC gene. In addition, deletion/duplication analysis, such as by array comparative genomic hybridization (aCGH), is used to test for the presence of large deletions or duplications in the APC gene. This test is used to confirm a diagnosis of familial adenomatous polyposis (FAP) for patients with clinical findings.
Source: Regenstrief LOINC

Part Description

LP19474-3   APC gene
The APC gene (adenomatous polyposis coli) [HGNC Gene ID:583] is located on chromosome 5q21-q22. This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] [NCBI Gene ID:324] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
APC gene deletion+duplication & full mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
APC gene Del+Dup + Full Mut Anl Bld/T
Display Name
APC gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
APC 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 APC estudio delecion+duplicacion y estudio mutacional completo:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Eliminación del gen APC + duplicación y análisis de mutación completo:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) APC gène délétion+duplication et analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) APC, gene Delezione+duplicazione & analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: delezione e duplicazione Gene APC Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) APC-gen deletie + duplicatie & volledige mutatie analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: APC gen molgen
tr-TR Turkish (Turkey) APC geni delesyon+duplikasyon ve tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
Synonyms: çiftleme
zh-CN Chinese (China) APC 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: APC基因;DP2;DP2.5;DP3;FAP;FPC;GS;大肠腺瘤样多发性息肉;大肠腺瘤样多发性息肉病;大肠腺瘤样息肉病;大肠腺瘤状多发性息肉;大肠腺瘤状多发性息肉病;大肠腺瘤状息肉病;家族性腺瘤性息肉病;家族性腺瘤样多发性息肉;家族性腺瘤样多发性息肉病;家族性腺瘤样息肉病;家族性腺瘤状多发性息肉;家族性腺瘤状多发性息肉病;家族性腺瘤状息肉病;结肠的腺瘤样多发性息肉;结肠的腺瘤样多发性息肉病;结肠的腺瘤样息肉病;结肠的腺瘤状多发性息肉;结肠的腺瘤状多发性息肉病;结肠的腺瘤状息肉病;结肠腺瘤病(aden 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

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