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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

LOINC Names Get Info

Fully-Specified Name
AS+PWS gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
AS+PWS gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
AS+PWS gene Mut Bld/T Mut Anl
Display Name
AS+PWS gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
AS+PWS gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    AS+PWS gene mutations
    LP452070-8
    • Analyte
      AS+PWS gene mutations
      LP452070-8
      • Component Numerator
        AS+PWS gene mutations
        LP452070-8
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.83 (NAM)
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
13441

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen AS+PWS cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο AS+PWS στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο AS+PWS Γονίδιο PWS Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen AS+PWS Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen AS + PWS:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)AS+PWS gènes mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)AS+PWS, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene AS+PWS Gene PWS Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)AS+PWS 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)AS+PWS-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: AS+PWS gen molgen PWS gen targeted
pl-PLPolish (Poland)AS+PWS gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu w zespole Angelmana i Pradera-Williego Analiza mutacji genu związanego z zespołem Pradera-Williego diagnostyka molekularna Gen PWS Gen zespołu Angelmana i zespołu Pradera-Williego wynik kategorialny
pt-BRPortuguese (Brazil)AS+PWS análise de mutação genética:Ident:Pt:Sg/Tecido:Nom: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; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; Arterial Stenosis; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)AS+PWS 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-TRTurkish (Turkey)AS+PWS geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
uk-UAUkrainian (Ukraine)AS+PWS ген аналіз цільової мутації:Наявність або Ідентифікація:МоментЧасу:Кров/Тканини:Категорійно:Молекулярна генетика
Synonyms: 15q11-13; Angelman + Prader Willi syndrome; Arterial Stenosis; Blood; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; 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-CNChinese (China)AS+PWS 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: 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 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 动脉狭窄 动脉狭窄（Arterial Stenosis，AS） 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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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=41117-3