Version 2.80

Part Descriptions

LP101603-1   SLC25A13 gene
Citrin also known as solute carrier family 25, member 13 (citrin) or SLC25A13 is a protein which in humans is encoded by the SLC25A13 gene. Citrin is associated with type II citrullinemia Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia , Wikipedia

LP101603-1   SLC25A13 gene
The SLC25A13 gene (solute carrier family 25 (aspartate/glutamate carrier), member 13) [HGNC Gene ID:10983] is located on chromosome 7q21.3. This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] [NCBI Gene ID:10165] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
SLC25A13 gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Long Common Name
SLC25A13 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
SLC25A13 gene Mut Anl Bld/T
Display Name
SLC25A13 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
SLC25A13 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.66 (MAJ)
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

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο SLC25A13 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Γονίδιο Γονίδιο SLC25A13 Εύρεση
es-ES Spanish (Spain) Gen SLC25A13 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutación dirigida al gen SLC25A13:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) SLC25A13 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) SLC25A13, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene SLC25A13 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) SLC25A13-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen SLC25A13 gen targeted
pt-BR Portuguese (Brazil) SLC25A13 análise de mutação do gene:Ident:Pt:Sg/Tecido:Nar:Genética molecular
ru-RU Russian (Russian Federation) SLC25A13 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) SLC25A13 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) SLC25A13 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: ARALAR2;CITRIN;CTLN2;mitochondrial aspartate glutamate carrier 2;solute carrier family 25, member 13 (citrin);柠檬素;维生素P;线粒体天门冬氨酸/谷氨酸载体 2;溶质载体家族 25, 成员 13 (citrin);线粒体天门冬氨酸/谷氨酸载体 2;溶质运载蛋白家族 25, 成员 13 (citrin) 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=61107-9