Version 2.66

34493-7PRF1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodActive

PRF1 gene targeted mutation analysis
Amnio fld

Additional Names

Short Name
PRF1 gene Mut Anl Amn
Display Name Beta
PRF1 gene targeted mutation analysis Molgen Doc (Amn fld)
Consumer Name Alpha
PRF1 gene Variant Analysis, Amniotic Fluid

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] Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Source: National Center for Biotechnology Information (NCBI) Gene, Link to OMIM

Basic Attributes

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

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

zh-CNChinese (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
nl-NLDutch (Netherlands)
PRF1-gen mutatie-analyse:bevinding:moment:vruchtwater:document:molgen
fr-FRFrench (France)
PRF1 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nar:Molgen
it-ITItalian (Italy)
PRF1, gene , analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:Molgen
ko-KRKorean (Korea, Republic of)
PRF1 유전자 돌연변이 분석:존재:검사시점:양수:설명적인:분자유전
pt-BRPortuguese (Brazil)
PRF1 análise de mutação genética:Ident:Pt:LiqAmni:Nar:Genética molecular
ru-RURussian (Russian Federation)
PRF1 ген исследование на мутацию:Находка:ТчкВрм:Амниотич ждк:Док:МолГен
es-ARSpanish (Argentina)
análisis de mutación del gen PRF1:presencia o identidad:punto en el tiempo:líquido amniótico:Narrativo:genética molecular
es-ESSpanish (Spain)
Gen PRF1 Analisis de mutaciones:Hallazgo:Punto temporal:Fluido Ammiótico:Doc:Genética molecular
tr-TRTurkish (Turkey)
PRF1 geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info