63454-3

TPMT gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal

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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

LOINC Names Get Info

Fully-Specified Name: TPMT gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name: TPMT gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name: TPMT gene Mut Tested Bld/T
Display Name: TPMT gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: TPMT gene variants tested for, Blood or tissue specimen

Part Model Get Info

Component
TPMT gene mutations tested for
LP229828-1
- Analyte
  TPMT gene mutations tested for
  LP229828-1
  - Component Numerator
    TPMT gene mutations tested for
    LP229828-1
    - Component Numerator Core
      TPMT gene
      LP33553-6
    - Component Numerator Core Suffix
      mutations tested for
      LP32421-7
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Prid
LP6850-4
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Nom
LP7750-5
Method
Molgen
LP6404-0

Basic Attributes

Class: MOLPATH.PHARMG
Type: Laboratory
First Released: Version 2.36
Last Updated: Version 2.73 (MIN)
Change Reason: Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.
Order vs. Observation: Observation
Common Test Rank Get Info: 13339

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen TPMT testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο TPMT εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.PHARMG Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο TPMT εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ES	Spanish (Spain)	Gen TPMT Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Mutaciones del gen TPMT analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-CA	French (Canada)	Gène TPMT, Mutations testées:Présence ou identité:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FR	French (France)	TPMT gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	TPMT, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Farmacogenomica Gene TPMT Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
nl-NL	Dutch (Netherlands)	TPMT-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: molgen TPMT gen
pl-PL	Polish (Poland)	TPMT gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna Synonyms: diagnostyka molekularna Gen TPMT wynik kategorialny
ru-RU	Russian (Russian Federation)	TPMT ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	TPMT geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	TPMT 基因已测试的突变:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法 Synonyms: 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存在;存在与否;特征标识;身份;身份标识已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变时刻;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突变突变类;基因突变血;血液遗传基因;遗传因子;吉恩;生物基因

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LOINC Copyright

Copyright © 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.