38537-7

ARX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

Active

Part Description

LP34684-8 ARX gene
The ARX gene (aristaless related homeobox) [HGNC Gene ID:18060] is located on chromosome Xp21.3. This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq, Jul 2008] [NCBI Gene ID:170302] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: ARX gene targeted mutation analysis
Property: Prid
Time: Pt
System: Bld/Tiss
Scale: Nom
Method: Molgen

Additional Names

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

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.14
Last Updated: Version 2.63
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

Language Variants Get Info

Tag	Language	Translation
es-AR	Spanish (Argentina)	gen ARX:presencia o identidad:punto en el tiempo:tejido, no especificado:Nominal:
es-ES	Spanish (Spain)	Gen ARX Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen ARX:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	ARX gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	ARX, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene ARX 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)	ARX 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	ARX-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: ARX gen molgen targeted
pt-BR	Portuguese (Brazil)	ARX análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: Aristaless-related homeobox, X-linked; Partington X-linked mental retardation syndrome; HGNC:9496; ISSX; MRX36; MRX54; MRXS1; PRTS; Infantile spasm syndrome, X-linked; 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)	ARX 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)	ARX geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	ARX 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: Partington X-连锁智力迟钝综合征;Partington X-连锁综合征(智力低下、共济失调和癫痫);Partington 综合征(智力低下、共济失调和癫痫);PRTS;幼儿痉挛综合征, X 染色体连锁;幼儿痉挛综合征, X-连锁;无芒相关同源框, X 染色体连锁;无芒相关同源框, X-连锁;Aristaless 相关性同源盒, X染色体连锁;Aristaless 相关性同源盒, X-连锁;HGNC:9496;ISSX;MRX36;MRX54;MRXS1;Partington X 染色体连锁智力全血或组织;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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