Version 2.78

Term Description

Three main genetic polymorphisms [c.238G>C (rs1800462), c.460G>A (rs1800460), and c.719A>G (rs16880254)] in the TPMT gene alter metabolization efficiency of the thiopurines in 80-95% of patients. Patients with average TPMT activity are heterozygous for these genetic changes. Patients with deficient enzyme activity are homozygous for these polymorphisms. This code was created for, but not limited to, Asper Biotech's Thiopurine S-Methyltransferase Deficiency - TPMT test.
Source: Regenstrief LOINC

Fully-Specified Name

Component
TPMT gene.c.238G>C+460G>A+719A>G
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nar
Method
Molgen

Additional Names

Long Common Name
TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative
Short Name
TPMT c.238G>C+460G>A+719A>G Bld/T
Display Name
TPMT gene c.238G>C+460G>A+719A>G Molgen Nar (Bld/Tiss)
Consumer Name Alpha Get Info
TPMT gene c.238G>C+460G>A+719A>G, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.40
Last Updated
Version 2.67
Change Reason
Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: TPMT Genotypisierung
es-ES Spanish (Spain) Gen TPMT .c.238G>C+460G>A+719A>G:Presencia o identidad:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
es-MX Spanish (Mexico) Gen TPMT c.238G> C + 460G> A + 719A> G:Presencia o identidad:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
fr-FR French (France) TPMT gène mutations c.238G>C+460G>A+719A>G:Identification:Ponctuel:Sang/Tissu:Résultat textuel:Biologie moléculaire
it-IT Italian (Italy) TPMT, gene.c.238G>C+460G>A+719A>G:Prid:Pt:Sangue/Tess:Nar:Molgen
Synonyms: Farmacogenomica Gene TPMT Gene TPMT c.238G>C Gene TPMT c.238G>C+460G>A+719A>G Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) TPMT-gen.c.238G>C+460G>A+719A>G:identificator:moment:bloed of weefsel:tekstueel:moleculair genetisch onderzoek
Synonyms: molgen TPMT gen TPMT gen.c.238G>C
pt-BR Portuguese (Brazil) TPMT gene.c.238G>C+460G>A+719A>G:Ident:Pt:Sg/Tecido:Nar:Genética molecular
ru-RU Russian (Russian Federation) TPMT ген.c.238G>C+460G>A+719A>G:ПрИд:ТчкВрм:Кр/Тк:Опис:МолГен
Synonyms: Кровь Кровь или Ткань Описательный Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) TPMT geni.c.238G>C+460G>A+719A>G:MevcKimlik:Zmlı:Kan/Dk:Öykü:Molgen
zh-CN Chinese (China) TPMT 基因.c.238G>C+460G>A+719A>G:存在与否或特征标识:时间点:全血/组织:叙述型:分子遗传学类实验室方法
Synonyms: A 型 C 型;丙;丙型 G 型 TPMT p.G238C 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 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 硫嘌呤 S-甲基转移酶基因;硫嘌呤甲基转移酶基因 血;血液 遗传基因;遗传因子;吉恩;生物基因

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