45331-6  NF1 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalNF1 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalNF1 gene targeted mutation analysis: Prid: Pt: Amnio fld: Nom: Molgen  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
NF1 gene targeted mutation analysis  Prid  Pt  Amnio fld  Nom  Molgen
  Long Common Name:  NF1 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method Nominal
  Short Name:  NF1 gene Mut Anl Amn
  Display Name:  NF1 gene targeted mutation analysis Molgen Nom (Amn fld)

PART DEFINITION/DESCRIPTION(S)
  Part: NF1 gene
  The NF1 gene (neurofibromin 1) [HGNC Gene ID:7765] is located on chromosome 17q11.2. This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4763]
 
 

BASIC ATTRIBUTES
  Class/Type: MOLPATH.MUT/Lab
  First Released in Version: 2.17
  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   LP19747-2  NF1 gene 
Component   LP229102-1  NF1 gene targeted mutation analysis 
     Suffix   LP32419-1  targeted mutation analysis 
Property   LP6850-4  Prid   [Presence or Identity] 
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)
 
  NF1 基因 突变分析:存在与否或特征标识:时间点:羊水:名义型:分子遗传学类实验室方法NF1 基因 突变分析:存在与否或特征标识: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)
 
  NF1-gen mutatie-analyse:identificator:moment:vruchtwater:nominaal:molgenNF1-gen mutatie-analyse:identificator:moment:vruchtwater:nominaal:molgen
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  NF1 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:MolgenNF1 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:MolgenNF1 gène mutation cible trouvée [Identification] Liquide amniotique ; Résultat nominal ; Biologie moléculaire
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  NF1, gene , analisi di mutazione mirata:Prid:Pt:Liquido amniotico:Nom:MolgenNF1, gene , analisi di mutazione mirata:Prid:Pt:Liquido amniotico:Nom:Molgen
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  NF1 análise de mutação genética:Ident:Pt:LiqAmni:Nom:Genética molecularNF1 análise de mutação genética:Ident:Pt:LiqAmni:Nom:Genética molecular
  Russian (RUSSIAN FEDERATION)  (From: Regenstrief-generated full translation based on part translation provided by Yaroslavl State Medical Academy)
 
  NF1 ген исследование на мутацию:ПрИд:ТчкВрм:Амниотич ждк:Ном:МолГенNF1 ген исследование на мутацию:ПрИд: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 NF1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Fluido Ammiótico:Nom:Genética molecularGen NF1 Analisis de mutaciones:Presencia o identidad: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)
 
  NF1 geni Mutasyon analizi:MevcKimlik:Zmlı:Amniyon sv:Snf:MolgenNF1 geni Mutasyon analizi:MevcKimlik:Zmlı:Amniyon sv:Snf:Molgen

RELATED NAMES
  AF MOLPATH PCR
  Amn MOLPATH.MUTATIONS Point in time
  Amn fl Mut Random
  Amnio Mut Anl von Recklinghausen disease
  Amniotic flu Mutations VRNF
  Amniotic fluid Neurofibromatosis Watson disease
  Identity or presence Neurofibromin 1 WSS
  Molecular genetics NFNS  
  Molecular pathology Nominal  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 5:37:15 PM
  Attachment Units Required: N
  Long Common Name: NF1 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method Nominal
  Shortname: NF1 gene Mut Anl Amn
  Fully Specified Name: NF1 gene targeted mutation analysis: Prid: Pt: Amnio fld: Nom: Molgen
     
  Component Word Count: 5
  ID: 38673
  Status (Raw): ACTIVE