93195-6
NUDT15 gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method
Active
Term Description
The NUDT15 gene product metabolic activity interpretation is determined by the reporting lab and returned with the structured test results. It indicates the lab's interpretation of the phenotype, regardless of whether the lab assay's method was genetic or enzymatic. 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. The lab may use the Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for reporting DPYD gene product metabolic activity (phenotype).
Source: Regenstrief LOINC
Part Description
LP410955-1 NUDT15 gene product metabolic activity interpretation
The NUDT15 (nudix hydrolase 15) gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016][NCBI Gene ID: 55270]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- NUDT15 gene product metabolic activity interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- NUDT15 gene prod met act imp Bld/T-Imp
- Display Name
- NUDT15 gene product metabolic activity interpretation Molgen Ql (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- NUDT15 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 2.67
- Last Updated
- Version 2.68
- Order vs. Observation
- Observation
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Interpretación de la actividad metabólica del producto del gen NUDT15: |
| es-MX | Spanish (Mexico) | Interpretación de la actividad metabólica del producto del gen NUDT15: |
| fr-FR | French (France) | NUDT15 gène activité métabolique interprétation: |
| it-IT | Italian (Italy) | NUDT15, interpretazione dell'attività metabolica del prodotto del gene: Synonyms: Farmacogenomica Genetica molecolare Impressione/interpretazione di studio Interpretazione dell''attività metabolica del gene Interpretazione dell''attività metabolica del prodotto del gene NUDT15 Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| zh-CN | Chinese (China) | NUDT15 基因产物新陈代谢活性解释: Synonyms: Nudix水解酶15; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=93195-6
LOINC Copyright
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