45332-4  NF2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalNF2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalNF2 gene targeted mutation analysis: Prid: Pt: Amnio fld: Nom: Molgen  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
NF2 gene targeted mutation analysis  Prid  Pt  Amnio fld  Nom  Molgen
  Long Common Name:  NF2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method Nominal
  Short Name:  NF2 gene Mut Anl Amn
  Display Name:  NF2 gene targeted mutation analysis Molgen Nom (Amn fld)

PART DEFINITION/DESCRIPTION(S)
  Part: NF2 gene
  The NF2 gene (neurofibromin 2 (merlin)) [HGNC Gene ID:7773] is located on chromosome 22q12.2. This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4771]
 
 

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   LP229103-9  NF2 gene targeted mutation analysis 
Component   LP36911-3  NF2 gene 
     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)
 
  NF2 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NF2 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)
 
  NF2-gen mutatie-analyse:identificator:moment:vruchtwater:nominaal:molgenNF2-gen mutatie-analyse:identificator:moment:vruchtwater:nominaal:molgen
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  NF2 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:MolgenNF2 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:MolgenNF2 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)
 
  NF2, gene , analisi di mutazione mirata:Prid:Pt:Liquido amniotico:Nom:MolgenNF2, gene , analisi di mutazione mirata:Prid:Pt:Liquido amniotico:Nom:Molgen
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  NF2 análise de mutação genética:Ident:Pt:LiqAmni:Nom:Genética molecularNF2 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)
 
  NF2 ген исследование на мутацию:ПрИд:ТчкВрм:Амниотич ждк:Ном:МолГенNF2 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 NF2 Analisis de mutaciones:Presencia o identidad:Punto temporal:Fluido Ammiótico:Nom:Genética molecularGen NF2 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)
 
  NF2 geni Mutasyon analizi:MevcKimlik:Zmlı:Amniyon sv:Snf:MolgenNF2 geni Mutasyon analizi:MevcKimlik:Zmlı:Amniyon sv:Snf:Molgen

RELATED NAMES
  ACN Merlin neurofibromin 2 (merlin)
  AF Molecular genetics Nominal
  Amn Molecular pathology PCR
  Amn fl MOLPATH Point in time
  Amnio MOLPATH.MUTATIONS Random
  Amniotic flu Mut SCH
  Amniotic fluid Mut Anl Schwannomerlin
  BANF Mutations Schwannomin
  Identity or presence Neurofibromin 2  

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: NF2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method Nominal
  Shortname: NF2 gene Mut Anl Amn
  Fully Specified Name: NF2 gene targeted mutation analysis: Prid: Pt: Amnio fld: Nom: Molgen
     
  Component Word Count: 5
  ID: 38674
  Status (Raw): ACTIVE