34512-4

NPHS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Description

LP31878-9 NPHS1 gene
The NPHS1 gene (nephrosis 1, congenital, Finnish type (nephrin)) [HGNC Gene ID:7908] is located on chromosome 19q13.1. This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] [NCBI Gene ID:4868] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: NPHS1 gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Short Name: NPHS1 gene Mut Anl Bld/T
Display Name: NPHS1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: NPHS1 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: 18392

Language Variants Get Info

Tag	Language	Translation
es-AR	Spanish (Argentina)	análisis de mutación del gen NPHS 1:presencia o identidad:punto en el tiempo:sangre entera/tejido:Narrativo:genética molecular
es-ES	Spanish (Spain)	Gen NPHS1 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen NPHS1:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	NPHS1 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	NPHS1, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene NPHS1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	NPHS1 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL	Dutch (Netherlands)	NPHS1-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: molgen NPHS1 gen targeted
pt-BR	Portuguese (Brazil)	NPHS1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: nephrosis 1, congenital, Finnish type; CNF; NPHN; Nephrin; 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)	NPHS1 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)	NPHS1 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	NPHS1 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: CNF;Nephrin;Nephrin（肾小球裂孔膜上发现的第一个跨膜蛋白,是细胞粘附分子中的免疫球蛋白超家族成员,参与肾脏滤过屏障的正常发育并维持其正常功能）;NPHN;肾病 1, 先天性, Finnish 型;肾病 1, 先天性, 芬兰型;芬兰型先天性肾病综合征;裂孔跨膜蛋白;裂孔跨膜蛋白 Nephrin;裂孔隔膜蛋白;裂孔隔膜蛋白 Nephrin 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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