Version 2.77

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

Fully-Specified Name

Component
PRF1 gene targeted mutation analysis
Property
Find
Time
Pt
System
Amnio fld
Scale
Doc
Method
Molgen

Additional Names

Short Name
PRF1 gene Mut Anl Amn
Display Name
PRF1 gene targeted mutation analysis Molgen Doc (Amn fld)
Consumer Name Alpha Get Info
PRF1 gene targeted mutation analysis, Amniotic fluid

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.10
Last Updated
Version 2.66
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

Member of these Panels

LOINC Long Common Name
54037-7 HEDIS 2009 panel
57820-3 HEDIS 2010 panel
60442-1 HEDIS 2011 panel
67767-4 HEDIS 2012 panel
72199-3 HEDIS 2013 panel
74234-6 HEDIS 2014 Value Sets

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) análisis de mutación del gen PRF1:presencia o identidad:punto en el tiempo:líquido amniótico:Narrativo:genética molecular
es-ES Spanish (Spain) Gen PRF1 Analisis de mutaciones:Hallazgo:Punto temporal:Fluido Ammiótico:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen PRF1:Hallazgo:Punto temporal:Líquido amniótico:Documento:Genética molecular
fr-FR French (France) PRF1 gène mutation cible trouvée:Recherche:Ponctuel:Liquide amniotique:Document:Biologie moléculaire
it-IT Italian (Italy) PRF1, gene analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:Molgen
Synonyms: Gene PRF1 Genetica molecolare Liquido amniotico Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio)
ko-KR Korean (Korea, Republic Of) PRF1 유전자 돌연변이 분석:존재:검사시점:양수:설명적인:분자유전
nl-NL Dutch (Netherlands) PRF1-gen doelgerichte mutatie-analyse:bevinding:moment:vruchtwater:document:moleculair genetisch onderzoek
Synonyms: molgen PRF1 gen targeted
pt-BR Portuguese (Brazil) PRF1 análise de mutação genética:Ident:Pt:LiqAmni:Nar: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; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) PRF1 ген исследование на мутацию:Находка:ТчкВрм:Амниотич ждк:Док:МолГен
Synonyms: Амниотическая жидкость Документ Точка во времени;Момент
tr-TR Turkish (Turkey) PRF1 geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:Molgen
Synonyms: Amniyon mayii
zh-CN Chinese (China) PRF1 基因 突变分析:发现:时间点:羊水:文档型: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 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 羊膜水;胎水 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=34493-7