48030-1  RHE gene mutations found [Type] in Amniotic fluid by Molecular genetics methodRHE gene mutations found [Type] in Amniotic fluid by Molecular genetics methodRHE gene targeted mutation analysis: Type: Pt: Amnio fld: Nom: Molgen  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
RHE gene targeted mutation analysis  Type  Pt  Amnio fld  Nom  Molgen
  Long Common Name:  RHE gene mutations found [Type] in Amniotic fluid by Molecular genetics method
  Short Name:  RHE gene Mut Anl Amn
  Display Name:  RHE gene targeted mutation analysis Molgen Nom (Amn fld)

PART DEFINITION/DESCRIPTION(S)
  Part: RHE gene
  The RHE gene (Rh blood group, CcEe antigens) gene is located on chromosome 1p36.11. The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in four transcript variants encoding four different isoforms. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6006]
 
 

BASIC ATTRIBUTES
  Class/Type: MOLPATH.MUT/Lab
  First Released in Version: 2.21
  Last Updated in Version: 2.63
  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.

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   LP229491-8  RHE gene targeted mutation analysis 
Component   LP62089-5  RHE gene 
     Suffix   LP32419-1  targeted mutation analysis 
Property   LP6886-8  Type 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP7000-5  Amnio fld   [Amniotic fluid] 
Scale   LP7750-5  Nom 
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)
 
  RHE 基因 突变分析:类型:时间点:羊水:名义型:分子遗传学类实验室方法RHE 基因 突变分析:类型:时间点:羊水:名义型: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)
 
  RHE-gen mutatie-analyse:type:moment:vruchtwater:nominaal:molgenRHE-gen mutatie-analyse:type:moment:vruchtwater:nominaal:molgen
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  RHE gene targeted mutation analysis:Type:Pt:Amnio fld:Nom:MolgenRHE gene targeted mutation analysis:Type:Pt:Amnio fld:Nom:MolgenRHE gène mutation cible trouvée [Type] Liquide amniotique ; Résultat nominal ; Biologie moléculaire
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  RHE, gene , analisi di mutazione mirata:Tipo:Pt:Liquido amniotico:Nom:MolgenRHE, gene , analisi di mutazione mirata:Tipo:Pt:Liquido amniotico:Nom:Molgen
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  RHE análise de mutação genética:Tipo:Pt:LiqAmni:Nom:Genética molecularRHE análise de mutação genética:Tipo:Pt:LiqAmni:Nom:Genética molecular
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  RHE ген исследование на мутацию:Тип:ТчкВрм:Амниотич ждк:Ном:МолГенRHE ген исследование на мутацию:Тип:ТчкВрм:Амниотич ждк:Ном:МолГен
  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 RHE Analisis de mutaciones:Tipo:Punto temporal:Fluido Ammiótico:Nom:Genética molecularGen RHE Analisis de mutaciones:Tipo:Punto temporal:Fluido Ammiótico:Nom: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)
 
  RHE geni Mutasyon analizi:Tip:Zmlı:Amniyon sv:Snf:MolgenRHE geni Mutasyon analizi:Tip:Zmlı:Amniyon sv:Snf:Molgen

RELATED NAMES
  AF Mut RHC
  Amn Mut Anl RHE
  Amn fl Mutations RhIVb(J)
  Amnio Nominal RHIXB
  Amniotic flu PCR RHPI
  Amniotic fluid Point in time RhVI
  CD240CE Random RhVIII
  Molecular genetics RH Typ
  Molecular pathology Rh blood group, CcEe antigens  
  MOLPATH RH30A  
  MOLPATH.MUTATIONS Rh4  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 5:23:18 PM
  Attachment Units Required: N
  Long Common Name: RHE gene mutations found [Type] in Amniotic fluid by Molecular genetics method
  Shortname: RHE gene Mut Anl Amn
  Fully Specified Name: RHE gene targeted mutation analysis: Type: Pt: Amnio fld: Nom: Molgen
     
  Component Word Count: 5
  ID: 41645
  Status (Raw): ACTIVE