34514-0

SLC22A18 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

Active

Part Description

LP31861-5 SLC22A18 gene
The SLC22A18 gene (solute carrier family 22, member 18) [HGNC Gene ID:10964] is located on chromosome 11p15.5. This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Two alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Oct 2010] [NCBI Gene ID:5002] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: SLC22A18 gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Short Name: SLC22A18 gene Mut Anl Bld/T
Display Name: SLC22A18 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: SLC22A18 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.10
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation: Both
Common Test Rank Get Info: 16319

Language Variants Get Info

Tag	Language	Translation
es-AR	Spanish (Argentina)	gen SLC22A1L:presencia o identidad:punto en el tiempo:sangre entera/tejido:Narrativo:genética molecular
es-ES	Spanish (Spain)	Gen SLC22A18 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutación dirigida al gen SLC22A18:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	SLC22A18 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	SLC22A18, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene SLC22A18 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	SLC22A1L 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL	Dutch (Netherlands)	SLC22A18-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: molgen SLC22A18 gen targeted
pt-BR	Portuguese (Brazil)	SLC22A18 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: solute carrier family 22 (organic cation transporter), member 1-like; BWR1A; BWSCR1A; IMPT1; ITM; ORCTL2; TSSC5; Beckwith-Wiedemann syndrome chromosome region 1, candidate a; imprinted polyspecific membrane transporter 1; organic cation transporter-like 2; SLC22A1L; Solute carrier family 22 (organic cation transporter), member 18; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	SLC22A18 ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	SLC22A18 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	SLC22A18 基因突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法 Synonyms: Beckwith-Wiedemann 综合征染色体区域 1, 候选 a;BWR1A;BWSCR1A;IMPT1;ITM;ORCTL2;SLC22A1L;TSSC5;印记性多特异性膜转运蛋白 1;印记性非特异性膜转运蛋白 1;巨大舌-脐膨出综合征染色体区域 1, 候选 a;有机阳离子转运蛋白样蛋白 2;溶质转运蛋白家族 22 (有机阳离子转运蛋白), 成员 1 样;溶质转运蛋白家族 22 (有机阳离子转运蛋白), 成员 18;溶质通道家族 22 (有机阳离子转运蛋白), 成员 1 样;溶质通道家族 22 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 & 涂片血;血液遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7^® FHIR^® Get Info

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=34514-0

LOINC Copyright

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, 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.