45327-4  FMR1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodFMR1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodFMR1 gene targeted mutation analysis: Find: Pt: Amnio fld: Doc: Molgen  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
FMR1 gene targeted mutation analysis  Find  Pt  Amnio fld  Doc  Molgen
  Long Common Name:  FMR1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics method
  Short Name:  FMR1 gene Mut Anl Amn
  Display Name:  FMR1 gene targeted mutation analysis Molgen Doc (Amn fld)

PART DEFINITION/DESCRIPTION(S)
  Part: FMR1 gene
  The FMR1 gene (fragile X mental retardation 1) [HGNC Gene ID:3775] is located on chromosome Xq27.3. The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5 ' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010] [NCBI Gene ID:2332]
 
 

BASIC ATTRIBUTES
  Class/Type: MOLPATH.MUT/Lab
  First Released in Version: 2.17
  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   LP228456-2  FMR1 gene targeted mutation analysis 
Component   LP33555-1  FMR1 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)
 
  FMR1 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FMR1 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)
 
  FMR1-gen mutatie-analyse:bevinding:moment:vruchtwater:document:molgenFMR1-gen mutatie-analyse:bevinding:moment:vruchtwater:document:molgen
  French (CANADA)  (From: Regenstrief-generated full translation based on part translation provided by Canada Health Infoway Inc.)
 
  Gène FMR1 ciblé, analyse de la mutation:Observation:Temps ponctuel:Liquide amniotique:Document:MolgenGène FMR1 ciblé, analyse de la mutation:Observation:Temps ponctuel:Liquide amniotique:Document:Molgen
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  FMR1 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nar:MolgenFMR1 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nar:MolgenFMR1 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)
 
  FMR1, gene , analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:MolgenFMR1, gene , analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:Molgen
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  FMR1 análise de mutação genética:Ident:Pt:LiqAmni:Nar:Genética molecularFMR1 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)
 
  FMR1 ген исследование на мутацию:Находка:ТчкВрм:Амниотич ждк:Док:МолГенFMR1 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 FMR1 Analisis de mutaciones:Hallazgo:Punto temporal:Fluido Ammiótico:Doc:Genética molecularGen FMR1 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)
 
  FMR1 geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:MolgenFMR1 geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:Molgen

RELATED NAMES
  AF FMRP Mut
  Amn Fragile X Mut Anl
  Amn fl Fragile X mental retardation 1 Mutations
  Amnio Fragile X syndrome PCR
  Amniotic flu FRAXA POF
  Amniotic fluid Molecular genetics POF1
  Document Molecular pathology Point in time
  Finding MOLPATH Random
  Findings MOLPATH.MUTATIONS  

CHANGE HISTORY
  Change Type: MAJ

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 5:37:15 PM
  Attachment Units Required: N
  Long Common Name: FMR1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics method
  Shortname: FMR1 gene Mut Anl Amn
  Fully Specified Name: FMR1 gene targeted mutation analysis: Find: Pt: Amnio fld: Doc: Molgen
     
  Component Word Count: 5
  ID: 38668
  Status (Raw): ACTIVE