36922-3

TPMT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Descriptions

LP33553-6 TPMT gene
TPMT (thiopurine methyltransferase) gene mutation determines a patient's ability to metabolize the thiopurine class of drugs. The activity of TPMT is genetically regulated. Source: Regenstrief Institute

LP33553-6 TPMT gene
The TPMT gene (thiopurine S-methyltransferase) [HGNC Gene ID:12014] is located on chromosome 6p22.3. This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014] [NCBI Gene ID:7172] Eight known mutations in variants TPMT*2 through *7 account for 90-95% of cases of TPMT deficiency, with four of them, all subtypes of TPMT*3, accounting for 75%. The 8 mutations are as follows: c.238G>C (TPMT*2), c.460G>A and c.719A>G (TPMT*3A), c.460G>A (TPMT*3B), c.719A>G (TPMT*3C), intron 9/exon10 splice junction mutation (TPMT*4), c.146C>T (TPMT*5), c.539A>T (TPMT*6), c.681T>G (TPMT*7). PMID: 11067806 Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: TPMT gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Long Common Name: TPMT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name: TPMT gene Mut Anl Bld/T
Display Name: TPMT gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: TPMT gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.PHARMG
Type: Laboratory
First Released: Version 2.13
Last Updated: Version 2.73 (MIN)
Change Reason: Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; Previous Releases: 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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation: Both
Common Test Rank Get Info: 7086

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: TPMT Genotyp.
el-GR	Greek (Greece)	Γονίδιο TPMT στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική Synonyms: Γονίδιο Γονίδιο TPMT Εύρεση
es-ES	Spanish (Spain)	Gen TPMT Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-AR	Spanish (Argentina)	gen TPMT:presencia o identidad:punto en el tiempo:tejido, no especificado:Narrativo:genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen TPMT:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-CA	French (Canada)	Gène TPMT ciblé, analyse de la mutation:Observation:Temps ponctuel:Sang/Tissu:Document:Molgen
fr-FR	French (France)	TPMT gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	TPMT, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Farmacogenomica Gene TPMT Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	TPMT 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL	Dutch (Netherlands)	TPMT-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: molgen targeted TPMT gen
pt-BR	Portuguese (Brazil)	TPMT análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: Thiopurine S-methyltransferase gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	TPMT ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	TPMT geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	TPMT 基因突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法 Synonyms: 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书全血或组织;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;聚合酶链式反应发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论基因突变分析时刻;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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Copyright © 2025 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.