34656-9  KEL gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodKEL gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodKEL gene targeted mutation analysis: Find: Pt: Amnio fld: Doc: Molgen  

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

PART DEFINITION/DESCRIPTION(S)
  Part: KEL gene
  The KEL gene (Kell blood group, metallo-endopeptidase) [HGNC Gene ID:6308] is located on chromosome 7q33. This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3792]
 
 

BASIC ATTRIBUTES
  Class/Type: MOLPATH.MUT/Lab
  First Released in Version: 2.11
  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
  (NOTE) KELL Negative: DNA ANALYSIS PREDICTS THAT THE FETUS DOES NOT HAVE THE K1 ALLELE    
  COMMENTS: PLEASE NOTE THAT THE ACTUAL ERROR RATE OF TYPING AMNIOTIC FLUID IS UNKNOWN. WE RECOMMEND THAT KELL Negative FETUSES CONTINUE TO BE FOLLOWED USING CLINICAL AND NON-INVASIVE MEANS (SUCH AS SONOGRAPHY) FOR THE DETECTION OF ERYTHROBLASTOSIS AND HYDROPS. DIAGNOSTIC ERRORS CAN OCCUR DUE TO PRIMER SITE MUTATIONS OR THE PRESENCE OF LESS FREQUENT KELL TYPES WHICH ARE Not detected BY THIS ANALYSIS. IN ADDITION, BLOODY SAMPLES MAY GIVE FALSE Negative RESULTS DUE TO MATERNAL CELL CONTAMINATION. NON-PATERNITY MAY EXPLAIN THE PRESENCE OF A FETAL GENOTYPE THAT IS INCONSISTENT WITH THE PATENTAL GENOTYPES. THE ACCURACY OF THIS ASSAY IS THOUGHT TO EXCEED 99%.    
  PERFORMED AT UNIVERSITY OF UTAH    

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   LP228795-3  KEL gene targeted mutation analysis 
Component   LP32674-1  KEL 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)
 
  KEL 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KEL 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)
 
  KEL-gen mutatie-analyse:bevinding:moment:vruchtwater:document:molgenKEL-gen mutatie-analyse:bevinding:moment:vruchtwater:document:molgen
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  KEL gene targeted mutation analysis:Prid:Pt:Amnio fld:Nar:MolgenKEL gene targeted mutation analysis:Prid:Pt:Amnio fld:Nar:MolgenKEL 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)
 
  KEL, gene , analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:MolgenKEL, gene , analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:Molgen
  Korean (KOREA, REPUBLIC OF)  (From: Korean Ministry for Health, Welfare, and Family Affairs)
 
  KEL 유전자 돌연변이 분석:존재:검사시점:양수:설명적인:분자유전KEL 유전자 돌연변이 분석:존재:검사시점:양수:설명적인:분자유전
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  KEL análise de mutação genética:NCnc:Pt:LiqAmni:Nar:Genética molecularKEL análise de mutação genética:NCnc:Pt:LiqAmni:Nar:Genética molecular
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  KEL ген исследование на мутацию:Находка:ТчкВрм:Амниотич ждк:Док:МолГенKEL ген исследование на мутацию:Находка:ТчкВрм:Амниотич ждк:Док:МолГен
  Spanish (ARGENTINA)  (From: Conceptum Medical Terminology Center)
 
  gen KEL:presencia o identidad:punto en el tiempo:líquido amniótico:Narrativo:gen KEL:presencia o identidad:punto en el tiempo:líquido amniótico:Narrativo:
  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 KEL Analisis de mutaciones:Hallazgo:Punto temporal:Fluido Ammiótico:Doc:Genética molecularGen KEL 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)
 
  KEL geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:MolgenKEL geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:Molgen

RELATED NAMES
  AF ECE3 MOLPATH.MUTATIONS
  Amn Finding Mut
  Amn fl Findings Mut Anl
  Amnio Kell blood group gene Mutations
  Amniotic flu Kell blood group, metallo-endopeptidase PCR
  Amniotic fluid Molecular genetics Point in time
  CD238 Molecular pathology Random
  Document MOLPATH  

CHANGE HISTORY
  Change Type: MAJ

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 6:25:44 PM
  Attachment Units Required: N
  Long Common Name: KEL gene targeted mutation analysis in Amniotic fluid by Molecular genetics method
  Shortname: KEL gene Mut Anl Amn
  Fully Specified Name: KEL gene targeted mutation analysis: Find: Pt: Amnio fld: Doc: Molgen
     
  Component Word Count: 5
  ID: 27020
  Status (Raw): ACTIVE