48781-9  CYP21A2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalCYP21A2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalCYP21A2 gene targeted mutation analysis: Prid: Pt: Amnio fld: Nom: Molgen  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
CYP21A2 gene targeted mutation analysis  Prid  Pt  Amnio fld  Nom  Molgen
  Long Common Name:  CYP21A2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method Nominal
  Short Name:  CYP21A2 gene Mut Anl Amn
  Display Name:  CYP21A2 gene targeted mutation analysis Molgen Nom (Amn fld)

PART DEFINITION/DESCRIPTION(S)
  Part: CYP21A2 gene
  The CYP21A2 gene (cytochrome P450, family 21, subfamily A, polypeptide 2) [HGNC Gene ID:2600] is located on chromosome 6p21.3. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1589]
 
 

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   LP228235-0  CYP21A2 gene targeted mutation analysis 
Component   LP28553-3  CYP21A2 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)
 
  CYP21A2 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CYP21A2 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)
 
  CYP21A2-gen mutatie-analyse:identificator:moment:vruchtwater:nominaal:molgenCYP21A2-gen mutatie-analyse:identificator:moment:vruchtwater:nominaal:molgen
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  CYP21A2 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:MolgenCYP21A2 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:MolgenCYP21A2 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)
 
  CYP21A2, gene , analisi di mutazione mirata:Prid:Pt:Liquido amniotico:Nom:MolgenCYP21A2, gene , analisi di mutazione mirata:Prid:Pt:Liquido amniotico:Nom:Molgen
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  CYP21A2 análise de mutação genética:Ident:Pt:LiqAmni:Nom:Genética molecularCYP21A2 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)
 
  CYP21A2 ген исследование на мутацию:ПрИд:ТчкВрм:Амниотич ждк:Ном:МолГенCYP21A2 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 CYP21A2 Analisis de mutaciones:Presencia o identidad:Punto temporal:Fluido Ammiótico:Nom:Genética molecularGen CYP21A2 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)
 
  CYP21A2 geni Mutasyon analizi:MevcKimlik:Zmlı:Amniyon sv:Snf:MolgenCYP21A2 geni Mutasyon analizi:MevcKimlik:Zmlı:Amniyon sv:Snf:Molgen

RELATED NAMES
  21 Hydroxylase Deficiency CPS1 Mut Anl
  AF CYP21 Mutations
  Amn CYP21B Nominal
  Amn fl cytochrome P450, family 21, subfamily A, polypeptide 2 P450c21B
  Amnio Identity or presence PCR
  Amniotic flu Molecular genetics Point in time
  Amniotic fluid Molecular pathology Random
  CA21H MOLPATH  
  CAH1 MOLPATH.MUTATIONS  
  Congenital adrenal hyperplasia Mut  

CHANGE HISTORY
  Change Type: MIN

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 5:19:46 PM
  Attachment Units Required: N
  Long Common Name: CYP21A2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method Nominal
  Shortname: CYP21A2 gene Mut Anl Amn
  Fully Specified Name: CYP21A2 gene targeted mutation analysis: Prid: Pt: Amnio fld: Nom: Molgen
     
  Component Word Count: 5
  ID: 42500
  Status (Raw): ACTIVE