46989-0  CFTR gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodCFTR gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodCFTR gene targeted mutation analysis: Find: Pt: Amnio fld: Doc: Molgen  

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

PART DEFINITION/DESCRIPTION(S)
  Part: CFTR gene
  The CFTR gene (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)) [HGNC Gene ID:1884] is located on chromosome 7q31.2. This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1080]
 
 

BASIC ATTRIBUTES
  Class/Type: MOLPATH.MUT/Lab
  First Released in Version: 2.19
  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.

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   LP227959-6  CFTR gene targeted mutation analysis 
Component   LP19684-7  CFTR 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)
 
  CFTR 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CFTR 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)
 
  CFTR-gen mutatie-analyse:bevinding:moment:vruchtwater:document:molgenCFTR-gen mutatie-analyse:bevinding:moment:vruchtwater:document:molgen
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  CFTR gene targeted mutation analysis:Prid:Pt:Amnio fld:Nar:MolgenCFTR gene targeted mutation analysis:Prid:Pt:Amnio fld:Nar:MolgenCFTR gène mutation cible trouvée [Identification] Liquide amniotique ; Résultat textuel ; Biologie moléculaire
  German (GERMANY)  (From: Institute for Medical Documentation and Information (DIMDI))
 
  CFTR-Genmutationsanalyse:Prid:Pkt:Amnio Fl:Nar:MolgenCFTR-Genmutationsanalyse:Prid:Pkt:Amnio Fl:Nar:Molgen
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  CFTR, gene , analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:MolgenCFTR, gene , analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:Molgen
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  CFTR análise de mutação genética:Ident:Pt:LiqAmni:Nar:Genética molecularCFTR 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)
 
  CFTR ген исследование на мутацию:Находка:ТчкВрм:Амниотич ждк:Док:МолГенCFTR ген исследование на мутацию:Находка:ТчкВрм:Амниотич ждк:Док: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 CFTR Analisis de mutaciones:Hallazgo:Punto temporal:Fluido Ammiótico:Doc:Genética molecularGen CFTR 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)
 
  CFTR geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:MolgenCFTR geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:Molgen

RELATED NAMES
  ABC35 CFTR/MRP MRP7
  ABCC7 Cystic fibrosis transmembrane conductance regulator Mut
  AF cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) Mut Anl
  Amn dJ760C5.1 Mutations
  Amn fl Document PCR
  Amnio Finding Point in time
  Amniotic flu Findings Random
  Amniotic fluid Molecular genetics TNR-CFTR
  CBAVD Molecular pathology  
  CF MOLPATH  
  CFA MOLPATH.MUTATIONS  

CHANGE HISTORY
  Change Type: MAJ

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 5:25:48 PM
  Attachment Units Required: N
  Long Common Name: CFTR gene targeted mutation analysis in Amniotic fluid by Molecular genetics method
  Shortname: CFTR Mut Anl Amn
  Fully Specified Name: CFTR gene targeted mutation analysis: Find: Pt: Amnio fld: Doc: Molgen
     
  Component Word Count: 5
  ID: 40500
  Status (Raw): ACTIVE