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Part Description

LP31880-5   PRF1 gene
The PRF1 gene (perforin 1 (pore forming protein)) [HGNC Gene ID:9360] is located on chromosome 10q22. The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5551] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
PRF1 gene mutations:Prid:Pt:Amnio fld:Nom:Targeted gene mutation analysis
Long Common Name
PRF1 gene mutations found [Identifier] in Amniotic fluid by Targeted gene mutation analysis Nominal
Short Name
PRF1 gene Mut Amn Mut Anl
Display Name
PRF1 gene mutations found Targeted gene mutation analysis Nom (Amn fld)
Consumer Name Alpha Get Info
PRF1 gene mutations found, Amniotic fluid

Part Model Get Info

  • Component
    PRF1 gene mutations
    LP452024-5
    • Analyte
      PRF1 gene mutations
      LP452024-5
      • Component Numerator
        PRF1 gene mutations
        LP452024-5
      • 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
    Amnio fld
    LP7000-5
    • System Core
      Amnio fld
      LP7000-5
    • 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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen PRF1 cílená mutační analýza:Přítomnost nebo identita:Časový bod:Amniová tekutina:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο PRF1 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αμνιακό υγρό:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αμνιακό υγρό Γονίδιο Γονίδιο PRF1 Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen PRF1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Fluido Ammiótico:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen PRF1:Presencia o identidad:Punto temporal:Líquido amniótico:Nominal:Genética molecular
fr-FRFrench (France)PRF1 gène mutation cible trouvée:Identification:Ponctuel:Liquide amniotique:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)PRF1, gene analisi di mutazione mirata:Prid:Pt:Liquido amniotico:Nom:Molgen
Synonyms: Gene PRF1 Genetica molecolare Liquido amniotico Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio)
ko-KRKorean (Korea, Republic Of)PRF1 유전자 돌연변이 분석:존재:검사시점:양수:명칭결과:분자유전
nl-NLDutch (Netherlands)PRF1-gen doelgerichte mutatie-analyse:identificator:moment:vruchtwater:nominaal:moleculair genetisch onderzoek
Synonyms: molgen PRF1 gen targeted
pl-PLPolish (Poland)PRF1 gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:płyn owodniowy:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu PRF1 diagnostyka molekularna Gen PRF1 wynik kategorialny
pt-BRPortuguese (Brazil)PRF1 análise de mutação genética:Ident:Pt:LiqAmni:Nom:Genética molecular
Synonyms: Perforin 1; preforming protein; Pore forming protein gene; PFP; P1; HPLH2; Identity or presence; Point in time; Random; Amn; Amniotic fluid; Amn fl; Amniotic flu; AF; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)PRF1 ген исследование на мутацию:ПрИд:ТчкВрм:Амниотич ждк:Ном:МолГен
Synonyms: Амниотическая жидкость Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TRTurkish (Turkey)PRF1 geni Mutasyon analizi:MevcKimlik:Zmlı:Amniyon sv:Snf:Molgen
Synonyms: Amniyon mayii
zh-CNChinese (China)PRF1 基因 突变分析:存在与否或特征标识:时间点:羊水:名义型:分子遗传学类实验室方法
Synonyms: HPLH2;P1;PFP;孔形成蛋白;孔形成蛋白基因;成孔蛋白;成孔蛋白基因;穿孔素 1;穿孔素基因;穿孔蛋白;细胞溶素;细胞膜孔形成蛋白基因 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 羊膜水;胎水 遗传基因;遗传因子;吉恩;生物基因

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