41048-0
TPMT gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
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
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- TPMT gene Mut Anl Bld/T
- Display Name
- TPMT gene targeted mutation analysis Molgen Nom (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 2.15
- Last Updated
- Version 2.73
- 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.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 7133
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen TPMT Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen TPMT: |
| fr-CA | French (Canada) | Gène TPMT ciblé, analyse de la mutation: |
| fr-FR | French (France) | TPMT gène mutation cible trouvée: |
| it-IT | Italian (Italy) | TPMT, gene analisi di mutazione mirata: Synonyms: Farmacogenomica Gene TPMT Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | TPMT 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | TPMT-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted TPMT gen |
| pt-BR | Portuguese (Brazil) | TPMT análise de mutação genética: Synonyms: Thiopurine S-methyltransferase gene; |
| ru-RU | Russian (Russian Federation) | TPMT ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | TPMT geni Mutasyon analizi: |
| zh-CN | Chinese (China) | TPMT 基因 突变分析: Synonyms: 全血或组织; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=41048-0
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright