34493-7  PRF1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodPRF1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodPRF1 gene targeted mutation analysis: Find: Pt: Amnio fld: Doc: Molgen  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
PRF1 gene targeted mutation analysis  Find  Pt  Amnio fld  Doc  Molgen
  Long Common Name:  PRF1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics method
  Short Name:  PRF1 gene Mut Anl Amn
  Display Name:  PRF1 gene targeted mutation analysis Molgen Doc (Amn fld)

PART DEFINITION/DESCRIPTION(S)
  Part: 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]
 
 

BASIC ATTRIBUTES
  Class/Type: MOLPATH.MUT/Lab
  First Released in Version: 2.10
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
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.

EXAMPLE ANSWERS
  MUTATION ANALYSIS: ANALYSIS OF EXON 3 OF THE PERFORIN GENE WAS PERFORMED ON DNA OBTAINED FROM THE SUBMITTED SAMPLE TO EVALUATE FOR THE PRESENCE OF THE H222R MUTATION ASSOCIATED WITH DISEASE IN A PREVIOUS OFFSPRING. ANALYSIS OF 275BP OF INTRON 2 OF THE PERFORIN GENE WAS ALSO PERFORMED ON DNA OBTAINED FROM THE SUBMITTED SAMPLE TO EVALUATE FOR THE PRESENCE OF THE IVS2+39, G->A CHANGE POSSIBLY ASSOCIATED WITH DISEASE IN THE PREVIOUS OFFSPRING, AS WELL AS TWO OTHER IVS2 POLYMORPHISMS. THE ANALYSIS WAS DONE BY BI-DIRECTIONAL SEQUENCING OF PCR-AMPLIFIED PRODUCTS.RESULT: THIS FETAL SAMPLE DID NOT CARRY THE MUTATION AFFECTING CODON 222 IN EXON 3 OF THE PERFORIN GENE. ANALYSIS OF THE THREE POLYMORPHIC POSITIONS IN IVS2 SHOWED THAT THE FETUS WAS HETEROZYGOUS (G/A) AT IVS2+39, AS IS THE FATHER OF THE FETUS (TESTED AT GENEDX) AND THE PREVIOUS AFFECTED OFFSPRING (BY PREVIOUS REPORT
  NOT TESTED AT GENEDX). AT THE TWO OTHER IVS2 POLYMORPHIC POSITIONS, THE FETUS WAS HOMOZYGOUS FOR THE ALLELE NOT REPRESENTED IN THE PUBLISHED SEQUENCE OF THE PERFORIN GENE (POSSIBLY SUGGESTING THAT THIS IS THE MINOR ALLELE).INTERPRETATION: THIS STUDY CONFIRMS THE PREVIOUS ANALYSIS USING FRESH AMNIOTIC FLUID. THE FETUS DOES NOT CARRY THE H222R CHANGE WHICH HAD ORIGINALLY BEEN IDENTIFIED BY THE RESEARCH LABORATORY ANDWHICH HAD BEEN INHERITED BY THE TWO PREVIOUS AFFECTED CHILDREN.THE INTERPRETATION OF THE IVS2 POLYMORPHISMS REMAINS UNCLEAR AS, TO DATE, NO MUTATIONS IN PERFORIN INTRONS HAVE BEEN ASSOCIATED WITH DISEASE. THUS, THE FETUS IS NOT EXPECTED TO BE AFFECTED BY FEL, DUE TO THE ABSENCE OF THE EXON 3 MUTATION, H222R. IT IS NOT POSSIBLE TO DETERMINE IF THE FETUS IS A CARRIER, HOWEVER, AS THECLINICAL SIGNIFICANCE OF ANY OF THE IVS2 POLYMORPHISMS REMAINSUNKNOWN.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  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
  

PARTS

Part Type    Part No.  Part Name   
Component   LP229396-9  PRF1 gene targeted mutation analysis 
Component   LP31880-5  PRF1 gene 
     Suffix   LP32419-1  targeted mutation analysis 
Property   LP6813-2  Find   [Finding] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP7000-5  Amnio fld   [Amniotic fluid] 
Scale   LP32888-7  Doc 
Method   LP6404-0  Molgen   [Molecular genetics] 
Fragments for synonyms   LP32514-9  Mutation 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from 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
  Dutch (NETHERLANDS)  (From: Regenstrief-generated full translation based on part translation provided by NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)
 
  PRF1-gen mutatie-analyse:bevinding:moment:vruchtwater:document:molgenPRF1-gen mutatie-analyse:bevinding:moment:vruchtwater:document:molgen
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  PRF1 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nar:MolgenPRF1 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nar:MolgenPRF1 gène mutation cible trouvée [Identification] Liquide amniotique ; Résultat textuel ; Biologie moléculaire
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  PRF1, gene , analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:MolgenPRF1, gene , analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:Molgen
  Korean (KOREA, REPUBLIC OF)  (From: Korean Ministry for Health, Welfare, and Family Affairs)
 
  PRF1 유전자 돌연변이 분석:존재:검사시점:양수:설명적인:분자유전PRF1 유전자 돌연변이 분석:존재:검사시점:양수:설명적인:분자유전
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  PRF1 análise de mutação genética:Ident:Pt:LiqAmni:Nar:Genética molecularPRF1 análise de mutação genética:Ident:Pt:LiqAmni:Nar:Genética molecular
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  PRF1 ген исследование на мутацию:Находка:ТчкВрм:Амниотич ждк:Док:МолГенPRF1 ген исследование на мутацию:Находка:ТчкВрм:Амниотич ждк:Док:МолГен
  Spanish (ARGENTINA)  (From: Conceptum Medical Terminology Center)
 
  análisis de mutación del gen PRF1:presencia o identidad:punto en el tiempo:líquido amniótico:Narrativo:genética molecularanálisis de mutación del gen PRF1:presencia o identidad:punto en el tiempo:líquido amniótico:Narrativo:genética molecular
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Gen PRF1 Analisis de mutaciones:Hallazgo:Punto temporal:Fluido Ammiótico:Doc:Genética molecularGen PRF1 Analisis de mutaciones:Hallazgo:Punto temporal:Fluido Ammiótico:Doc:Genética molecular
  Turkish (TURKEY)  (From: Regenstrief-generated full translation based on part translation provided by LOINC Turkish Translation Group and the Turkish Ministry of Health)
 
  PRF1 geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:MolgenPRF1 geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:Molgen

RELATED NAMES
  AF HPLH2 Perforin 1
  Amn Molecular genetics perforin 1 (pore forming protein)
  Amn fl Molecular pathology PFN1
  Amnio MOLPATH PFP
  Amniotic flu MOLPATH.MUTATIONS Point in time
  Amniotic fluid Mut Pore forming protein gene
  Document Mut Anl preforming protein
  Finding Mutations Random
  Findings P1  
  FLH2 PCR  

CHANGE HISTORY
  Change Type: MAJ

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 6:27:14 PM
  Attachment Units Required: N
  Long Common Name: PRF1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics method
  Shortname: PRF1 gene Mut Anl Amn
  Fully Specified Name: PRF1 gene targeted mutation analysis: Find: Pt: Amnio fld: Doc: Molgen
     
  Component Word Count: 5
  ID: 26839
  Status (Raw): ACTIVE