40425-1
CYP2D6 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
Active
Term Description
The patient's CYP2D6 allelic genotype (e.g. *1/*2A) based on analysis of multiple variants (e.g. *2,*2A,*3-*12,*14,*15,*17,*19, etc.) as well as gene deletions, duplications and rearrangements within the CYP2D6 gene. The example answers provided with this code are a small representative of the CYP2D6 allelic genotypes. For a complete list of CYP2D6 alleles, see the The Human Cytochrome P450 (CYP) Allele Nomenclature Database (http://www.cypalleles.ki.se).
Source: Regenstrief LOINC
Part Description
LP417569-3 CYP2D6 gene allele
Cytochrome P450-2D6 (CYP2D6;[HGNC Gene ID: 2625]), a member of the cytochrome P450 mixed-function oxidase system, is involved in the metabolism approximately 25% of drugs in current clinical use. Genetic variations in CYP2D6 can affect the response (i.e., efficacy or toxicity) to drugs metabolized by CYP2D6 and selection of alternative dosing or agents may be necessary in individuals with specific CYP2D6 genetic variations. PMID: 23486447 PMID: 24458010 PMID: 25974703. See https://www.pharmgkb.org/gene/PA128 for more information and dosing guidelines for drugs impacted by CYP2D6 genetic variation.
Source: Clinical Pharmacogenetics Implementation Consortium
Fully-Specified Name
- Component
- CYP2D6 gene allele
- Property
- Geno
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CYP2D6 allele Geno Bld/T
- Display Name
- CYP2D6 gene allele genotype Molgen (Bld/Tiss)
- Consumer Name Alpha Get Info
- CYP2D6 gene allele genotype, Blood or tissue specimen
Example Answer List: LL5517-9
Source: Regenstrief LOINC| Answer | Code | Score | Answer ID |
|---|---|---|---|
| CYP2D6*1A/*4X2 | LA30687-0 | ||
| CYP2D6*1A/*1B | LA30688-8 | ||
| CYP2D6*1A/*1C | LA30689-6 | ||
| CYP2D6*1C/*6B | LA30690-4 |
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.15
- Last Updated
- Version 2.73
- Change Reason
- Release 2.68: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.; COMPONENT: Updated Component to align with the LOINC term naming model for concepts used to report allelic genotypes (e.g. CYP2D6*1/*1), which was the original intent for this term.; Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.; Previous Releases: Added specimen of saliva since Cytochrome P450 gene testing is commonly done on saliva as well as blood specimens and results are theoretically the same for both.; 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
- 9273
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 72886-5 | CYP2D6 gene and CYP2C19 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Alelo del gen CYP2D6: |
| es-MX | Spanish (Mexico) | Alelo del gen CYP2D6: |
| fr-FR | French (France) | CYP2D6 gène allèle: |
| it-IT | Italian (Italy) | CYP2D6, gene allele: Synonyms: Farmacogenomica Gene CYP2D6 Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | CYP2D6 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | CYP2D6-allel: Synonyms: CYP2D6 gen molgen |
| pt-BR | Portuguese (Brazil) | CYP2D6 análise de mutação genética: Synonyms: Cytochrome p450; |
| zh-CN | Chinese (China) | CYP2D6 基因等位基因: Synonyms: CPD6; |
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=40425-1
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