Version 2.78

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 targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
APC gene Mut Anl Bld/T
Display Name
APC gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
APC gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.73
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both
Common Test Rank Get Info
9988

Language Variants Get Info

Tag Language Translation
de-DE German (Germany) aktiviertes Protein C-Gen zielgerichtete Mutationsanalyse:Nachweis oder Identität:Zeitpunkt:Blut oder Gewebe:Nominal:Molekulargenetisch
es-ES Spanish (Spain) Gen APC Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-AR Spanish (Argentina) análisis de la mutación del gen APC:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen APC:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) APC gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) APC, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene APC Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) APC 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) APC-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: APC gen molgen targeted
pt-BR Portuguese (Brazil) APC análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Familial adenomatous polyposis; FAP; Adenomatous polyposis of the colon; Adenomatosis polyposis coli; DP2; DP2.5; DP3; FPC; GS; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) APC ген исследование на мутацию: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) APC geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) APC 基因 突变分析: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: 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 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 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 基因突变分析 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 血;血液 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=20990-8