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Term Description

The patient's genotype for the c.-1252G>C (rs1800544) variant, which is located in a transcription factor binding site in the 5'UTR of the ADRA2A (adrenergic receptor alpha 2A) gene and may impact gene expression.

Part Description

LP417562-8   ADRA2A gene.c.-1252G>C
Adrenoceptor Alpha 2A (ADRA2A) gene [HGNC ID: 281] is a protein coding gene that encodes for receptors distributed within the central nervous system and periphery. Studies have shown the a variant within the ADRA2A gene, c.-1252G>C (rs1800544), is associated with the effectiveness of methylphenidate (Ritalin®)and dexmethylphenidate (Focalin®), medications used to treat symptoms of attention deficit hyperactivity disorder (ADHD). PMID: 27482244 Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
ADRA2A gene.c.-1252G>C:Geno:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
ADRA2A gene c.-1252G>C [Genotype] in Blood or Tissue by Molecular genetics method Nominal
Short Name
ADRA2A c.-1252G>C Geno Bld/T
Display Name
ADRA2A gene c.-1252G>C genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
ADRA2A gene c.-1252G>C genotype, Blood or tissue specimen

Part Model Get Info

  • Component
    ADRA2A gene.c.-1252G>C
    LP417562-8
    • Analyte
      ADRA2A gene.c.-1252G>C
      LP417562-8
      • Component Numerator
        ADRA2A gene.c.-1252G>C
        LP417562-8
        • Component Numerator Core
          ADRA2A gene.c.-1252G>C
          LP417562-8
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Geno
    LP345004-8
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Example Answer List: LL3029-7

Source: Regenstrief LOINC
AnswerCodeScoreAnswer ID
G/G (wild type)LA19932-5
G/C (heterozygous)LA21511-3
C/C (homozygous)LA21506-3

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68 (ADD)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen ADRA2A c.-1252G>C:Genotyp:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο ADRA2A.c.-1252G>C:Geno:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: C Geno MOLPATH MOLPATH.PHARMG Nom Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο ADRA2A.c.-1252G>C Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen ADRA2A c.-1252G> C:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Gen ADRA2A c.-1252G> C:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)ADRA2A gène mutation c.-1252G>C:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)ADRA2A gene.c.-1252G>C:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: ADRA2A gene c.-1252G>C Farmacogenomica Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)ADRA2A-gen c.-1252G>C:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)ADRA2A gen.c.-1252G>C:genotyp:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen ADRA2A c.-1252G>C wynik kategorialny
zh-CNChinese (China)ADRA2A 基因.c.-1252G>C:基因型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94401-7