Version 2.77

Part Description

LP35582-3   L1CAM gene
The L1CAM gene (L1 cell adhesion molecule) [HGNC Gene ID:6470] is located on chromosome Xq28. The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013] [NCBI Gene ID:3897] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
L1CAM gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
L1CAM gene Mut Anl Bld/T
Display Name
L1CAM gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
L1CAM gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
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
7838

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen L1CAM Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen L1CAM:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) L1CAM gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) L1CAM, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene L1CAM Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) L1CAM 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL Dutch (Netherlands) L1CAM-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: L1CAM gen molgen targeted
pt-BR Portuguese (Brazil) L1CAM análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: Mental retardation, aphasia, shuffling gait and adducted thumbs (MASA) syndrome; CAML1; CD171 gene; HGNC:7086; HSAS; Hydrocephalus, stenosis of aqueduct of Sylvius 1 (HSAS1); MASA; MIC5; N-CAML1; S10; SPG1; L1 cell adhesion molecule; Neural cell adhesion molecule L1 precursor; 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) L1CAM 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) L1CAM geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) L1CAM 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: CAML1;CD171 基因;HGNC:7086;HSAS;HSAS1;L1 细胞粘附分子(脑积水, Sylvius 导水管狭窄 1, MASA (智力缺陷, 失语症, 曳步及拇指内收)综合征, 痉挛性截瘫 1);L1 细胞粘附分子(脑积水, Sylvius 导水管狭窄 1, MASA (智力缺陷, 失语症, 曳行及拇指内收)综合征, 痉挛性截瘫 1);L1 细胞粘附分子(脑积水, Sylvius 导水管狭窄 1, MASA (智力迟钝, 失语症, 曳步及拇指内收)综合征, 痉挛性截瘫 1);L1 细胞粘 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

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=40477-2