Version 2.78

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.
Source: Regenstrief LOINC

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

Fully-Specified Name

Component
ADRA2A gene.c.-1252G>C
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

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

Example Answer List: LL3029-7

Source: Regenstrief LOINC
Answer Code Score Answer 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
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen ADRA2A c.-1252G> C:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Gen ADRA2A c.-1252G> C:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) ADRA2A gène mutation c.-1252G>C:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (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-NL Dutch (Netherlands) ADRA2A-gen c.-1252G>C:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
zh-CN Chinese (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