Version 2.78

Term Description

The TPMT gene product metabolic activity interpretation is determined by the reporting lab and returned with the structured test results. The Preferred Answer list associated with this term is based on the Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for reporting TPMT gene product metabolic activity (phenotype), which apply to both genetic and enzymatic assays (this LOINC term represents a genetic assay). This specific interpretation would be considered a separate observation made by the lab in addition to the primary reported results (e.g., genotype or measured activity level) and it could be included with other assay-specific observations, which would ideally support the interpretation value. [https://cpicpgx.org/resources.html]
Source: Regenstrief LOINC

Part Description

LP203040-3   TPMT gene product metabolic activity interpretation
Thiopurine S-methyltransferase (TPMT; [HGNC Gene ID: 12014]) is involved in the metabolism of all thiopurines and is one of the main enzymes that inactivates thiopurine drugs (e.g., Thioguanine, mercaptopurine, azathioprine). In all patients receiving thiopurine, there is a risk of bone marrow suppression. This adverse effect is dose-dependent and may be reversed by reducing the dose of thiopurine. However, individuals who inherit two no function TPMT alleles universally experience life-threatening myelosuppression. PMID: 23422873 See https://www.pharmgkb.org/gene/PA356 for more information and dosing guidelines for drugs impacted by TPMT genetic variation. Source: Clinical Pharmacogenetics Implementation Consortium

Fully-Specified Name

Component
TPMT gene product metabolic activity interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
TPMT gene prod met act imp Bld/T-Imp
Display Name
TPMT gene product metabolic activity interpretation Molgen Ql (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
TPMT gene product metabolic activity interpretation, Blood or tissue specimen

Preferred Answer List: LL3856-3

Source: Clinical Pharmacogenetics Implementation Consortium
Answer Code Score Answer ID
Ultrarapid metabolizer LA10315-2
Rapid metabolizer LA25390-8
Normal metabolizer LA25391-6
Intermediate metabolizer LA10317-8
Poor metabolizer LA9657-3

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
7553

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen TPMT interpretation de la actividad en el metabolismo de fármacos:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Interpretación de la actividad metabólica del producto del gen TPMT:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) TPMT gène activité métabolique interprétation:Interprétation:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) Interpretazione dell'attività metabolica del gene TPMT:Imp:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Farmacogenomica Gene TPMT Genetica molecolare Impressione/interpretazione di studio Interpretazione dell''attività metabolica del gene Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) TPMT-gen product metabole activiteit interpretatie:interpretatie:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen TPMT gen TPMT gen product metabole activiteit interpretatie
tr-TR Turkish (Turkey) TPMT geni ürünü metabolik aktivite yorumu:İzlnm:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) TPMT 基因产物新陈代谢活性解释:印象:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: TPMT 基因产物新陈代谢（代谢）活性解释（说明、阐释、诠释、解释说明） 代谢作用;新陈代谢 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 基因产物新陈代谢（代谢）活性解释（说明、阐释、诠释、解释说明） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 活动 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=79713-4