57312-1

PRNP gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal

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Part Description

LP97417-7 PRNP gene
The PRNP gene (prion protein) [HGNC Gene ID:9449] is located on chromosome 20p13. The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] [NCBI Gene ID:5621] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name: PRNP gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name: PRNP gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name: PRNP gene Mut Tested Bld/T
Display Name: PRNP gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: PRNP gene variants tested for, Blood or tissue specimen

Part Model Get Info

Component
PRNP gene mutations tested for
LP229398-5
- Analyte
  PRNP gene mutations tested for
  LP229398-5
  - Component Numerator
    PRNP gene mutations tested for
    LP229398-5
    - Component Numerator Core
      PRNP gene
      LP97417-7
    - Component Numerator Core Suffix
      mutations tested for
      LP32421-7
  - 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
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Nom
LP7750-5
Method
Molgen
LP6404-0

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.29 (MIN)
Order vs. Observation: Observation

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen PRNP testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο PRNP εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο PRNP εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ES	Spanish (Spain)	Gen PRNP Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Mutaciones del gen PRNP analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-CA	French (Canada)	Gène PRNP, Mutations testées:Présence ou identité:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FR	French (France)	PRNP gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	PRNP, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene PRNP Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
nl-NL	Dutch (Netherlands)	PRNP-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: molgen PRNP gen
pl-PL	Polish (Poland)	PRNP gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna Synonyms: diagnostyka molekularna Gen PRNP wynik kategorialny
pt-BR	Portuguese (Brazil)	PRNP gene teste para mutação:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: Prion protein gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	PRNP ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	PRNP geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	PRNP 基因已测试的突变: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: ASCR;CD230;CJD;GSS;MGC26679;prion;PRIP;PrP;PrP27-30;PrP33-35C;PrPc;prion protein;PRNP;朊病毒蛋白;朊病毒;朊蛋白;侵染子;侵染子蛋白;朊粒;朊粒病;疯牛病病毒全血或组织;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存在;存在与否;特征标识;身份;身份标识已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片突变突变类;基因突变血;血液遗传基因;遗传因子;吉恩;生物基因

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Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.