Version 2.78

Part Description

LP33216-0   AS+PWS gene
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are rare genetic disorders in which several genes (e.g. SNRPN, UBE3A) on chromosome 15(q11-13) are deleted or unexpressed. Alterations in the PWS/AS region (15q11-13) may occur by several genetic mechanisms, including chance mutation, uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions. PWS and AS are some of the first reported instances of imprinting disorders in humans. In PWS, the maternally inherited copies of genes are virtually silent due to imprinting. Only the paternal copies of the genes are expressed. Therefore, PWS results from the loss of paternal copies of this region. Alternately, AS is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced.

Characteristic features of PWS include diminished fetal activity, obesity, hypotonia, developmental delay, short stature, hypogonadotropic hypogonadism, strabismus, and small hands and feet. AS is characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Prader-Willi Syndrome (PWS) and Angleman Syndrome (AS), Genomic Imprinting

Fully-Specified Name

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

Additional Names

Short Name
AS+PWS gene Mut Anl Bld/T
Display Name
AS+PWS gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
AS+PWS 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.; 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
11621

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen AS+PWS Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-AR Spanish (Argentina) gen AS+PWS:presencia o identidad:punto en el tiempo:tejido, no especificado:Narrativo:genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen AS + PWS:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) AS+PWS gènes mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) AS+PWS, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene AS+PWS Gene PWS Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) AS+PWS 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL Dutch (Netherlands) AS+PWS-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: AS+PWS gen molgen PWS gen targeted
pt-BR Portuguese (Brazil) AS+PWS análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: Prader Willi syndrome; Angelman + Prader Willi syndrome; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; Arterial Stenosis; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) AS+PWS 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) AS+PWS geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
uk-UA Ukrainian (Ukraine) AS+PWS ген аналіз цільової мутації:Знахідка:МоментЧасу:Кров/Тканини:Документ:Молекулярна генетика
Synonyms: 15q11-13; Angelman + Prader Willi syndrome; Arterial Stenosis; Blood; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; Point in time; Prader Willi syndrome; Prader-Willi syndrome chromosome region; PWS; Random; SNRPN; Tissue; Tissue, unspecified; UBE3A; WB; Whole blood; Whole blood or Tissue
zh-CN Chinese (China) AS+PWS 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: Angelman+Prader Willi 综合征;Angelman 与 Prader Willi 综合征;Prader-Willi/Angelman 综合征;PWS/AS;帕德-维利/安吉曼综合征;普-威综合征和安格尔曼综合征;普莱德-威利综合征与安琪儿综合征 Prader-Willi 综合征;PWS;两阶段综合征;普来德-威利综合征;普瑞德威利症候群;普莱德-威利综合征 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 动脉狭窄 动脉狭窄（Arterial Stenosis，AS） 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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=35466-2