34518-1

SMPD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Description

LP30751-9 SMPD1 gene
The SMPD1 gene (sphingomyelin phosphodiesterase 1, acid lysosomal) [HGNC Gene ID:11120] is located on chromosome 11p15.4-p15.1. The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010] [NCBI Gene ID:6609] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: SMPD1 gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Long Common Name: SMPD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name: SMPD1 gene Mut Anl Bld/T
Display Name: SMPD1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: SMPD1 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: 7143

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Gen SMPD1 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-AR	Spanish (Argentina)	análisis de mutación del gen NPDA:presencia o identidad:punto en el tiempo:sangre entera/tejido:Narrativo:genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen SMPD1:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	SMPD1 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	SMPD1, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene SMPD1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	SMPD1 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL	Dutch (Netherlands)	SMPD1-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: molgen SMPD1 gen targeted
pt-BR	Portuguese (Brazil)	SMPD1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: ASM gene deficiency; Nieman-Pick Disease Type A; Niemann-Pick Disease Type A; Niemann-Pick A and B disease gene; NPDA; NPDB; Niemann-Pick Disease Type B; 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)	SMPD1 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)	SMPD1 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
uk-UA	Ukrainian (Ukraine)	Аналіз мутацій гену SMPD1:Знахідка:МоментЧасу:Кров/Тканини:Документ:Молекулярна генетика Synonyms: ASM; ASM gene deficiency; ASMASE; Blood; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Niemann-Pick A and B disease gene; Niemann-Pick Disease Type A; Niemann-Pick Disease Type B; Nieman-Pick Disease Type A; NPD; NPDA; NPDB; PCR; Point in time; Random; sphingomyelin phosphodiesterase 1, acid lysosomal; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
zh-CN	Chinese (China)	SMPD1 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: ASM 基因缺陷;Nieman-Pick 病 A 与 B 型基因;Nieman-Pick 病 A 型;Nieman-Pick 病 B 型;NPDA;NPDB;尼曼-匹克病 A 与 B 型基因;尼曼-匹克病 A 型;尼曼-匹克病 B 型;尼曼-皮克病 A 与 B 型基因;尼曼-皮克病 A 型;尼曼-皮克病 B 型临床文档型;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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