35297-1

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

Active

Part Description

LP33146-9 LMNA gene
The LMNA gene (lamin A/C) [HGNC Gene ID:6636] is located on chromosome 1q22. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012] [NCBI Gene ID:4000] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

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

Additional Names

Long Common Name: LMNA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name: LMNA gene Mut Anl Bld/T
Display Name: LMNA gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: LMNA gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.13
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: 18393

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Gen LMNA Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-AR	Spanish (Argentina)	gen LMNA:presencia o identidad:punto en el tiempo:tejido, no especificado:Nominal:genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen LMNA:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	LMNA gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	LMNA, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene LMNA 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)	LMNA 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	LMNA-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: LMNA gen molgen targeted
pt-BR	Portuguese (Brazil)	LMNA análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: CMD1A; CMT2B1; EMD2; FPL; FPLD; HGPS; LDP1; LFP; LMN1; LMNC; PRO1; Charcot-Marie-Tooth disease, axonal, type 2B1; lamin A/C; Progeria 1 (Hutchinson-Gilford type); 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)	LMNA 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)	LMNA geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	LMA 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: Charcot-Marie Tooth 病, 轴突性, 2B1 型;Charcot-Marie-Tooth 病, 轴突性, 2B1 型;CMD1A;CMT2B1;EMD2;FPL;FPLD;HGPS;lamin A/C;LDP1;LFP;LMN1;LMNC;PRO1;Progeria 1 (Hutchinson-Gilford型);儿童早衰症 1 型 (Hutchinson-Gilford 型);早老症 1 型 (Hutchinson-Gilford 型);早衰症 1 型 (Hutchinson-Gilf 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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Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 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.