54450-2
CYP2C9 and VKORC1 panel - Blood or Tissue by Molecular genetics method
Active
46724-1 CYP2C9 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
Term Description
The patient's allelic genotype (e.g. *1/*8) for the CYP2C9 gene allele. Testing may include the most common alleles of CYP2C9, such as *2, *6,*8,*11,*13,*15. The example answers provided with this code are a small representative of the CYP2C9 allelic genotypes. For a complete list of CYP2C9 alleles, see the The Human Cytochrome P450 (CYP) Allele Nomenclature Database (http://www.cypalleles.ki.se).
Source: Regenstrief LOINC
Part Descriptions
LP417568-5 CYP2C9 gene allele
Cytochrome P450-2C9 (CYP2C9; [HGNC Gene ID: 2623]), a member of the cytochrome P450 mixed-function oxidase system, is involved in the metabolism 10-15% of drugs in current clinical use. Genetic variations in CYP2C9 can affect the response (i.e., efficacy or toxicity) to drugs metabolized by CYP2C9 and selection of alternative dosing or agents may be necessary in individuals with specific CYP2C9 genetic variations. PMID: 25099164 PMID: 21900891 See https://www.pharmgkb.org/gene/PA126 for more information and dosing guidelines for drugs impacted by CYP2C9 genetic variation.
Source: Clinical Pharmacogenetics Implementation Consortium
Fully-Specified Name
- Component
- CYP2C9 gene allele
- Property
- Geno
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CYP2C9 allele Geno Bld/T
- Display Name
- CYP2C9 gene allele genotype Molgen (Bld/Tiss)
- Consumer Name Alpha Get Info
- CYP2C9 gene allele genotype, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Release 2.68: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; COMPONENT: Updated Component to align with the LOINC term naming model for concepts used to report allelic genotypes (e.g. CYP2C9*1/*8), which was the original intent for this term.; 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
- 9570
Example Answer List LL5510-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| CYP2C9 *1/*2 | LA30670-6 | ||
| CYP2C9 *1/*6 | LA30671-4 | ||
| CYP2C9 *6/*11 | LA30672-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54450-2 | CYP2C9 and VKORC1 panel - Blood or Tissue by Molecular genetics method |
| 93196-4 | Warfarin response genotype panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: CYP2C9 Genotyp. |
| es-MX | Spanish (Mexico) | Alelo del gen CYP2C9: |
| es-ES | Spanish (Spain) | Alelo del gen CYP2C9: |
| fr-FR | French (France) | CYP2C9 gène allèle: |
| it-IT | Italian (Italy) | CYP2C9, gene allele: Synonyms: Farmacogenomica Gene CYP2C9 Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | CYP2C9-allel: Synonyms: CYP2C9 gen molgen |
| pt-BR | Portuguese (Brazil) | CYP2C9 análise de mutação genética: Synonyms: Cytochrome P450 2C9 Genotyping; |
| zh-CN | Chinese (China) | CYP2C9 基因等位基因: Synonyms: CPC9; |
50722-8 VKORC1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Term Description
The presence of the heterozygous missense mutation -1639 G>A in the VKORC1 gene can result in warfarin resistance. VKORC1 DNA analysis is performed by PCR followed by restriction enzyme digestion to detect -1639 G>A.
Source: Regenstrief LOINC
Part Descriptions
LP65679-0 VKORC1 gene
The VKORC1 gene (vitamin K epoxide reductase complex, subunit 1) [HGNC Gene ID:23663] is located on chromosome 16p11.2. Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] [NCBI Gene ID:79001]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- VKORC1 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- VKORC1 gene Mut Anl Bld/T
- Display Name
- VKORC1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- VKORC1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.22
- 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
- 13213
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54450-2 | CYP2C9 and VKORC1 panel - Blood or Tissue by Molecular genetics method |
| 93196-4 | Warfarin response genotype panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: VKORC1 Genotyp. |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen VKORC1: |
| es-ES | Spanish (Spain) | Gen VKORC1 Analisis de mutaciones: |
| fr-FR | French (France) | VKORC1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | VKORC1, gene analisi di mutazione mirata: Synonyms: Farmacogenomica Gene VKORC1 Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | VKORC1-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted VKORC1 gen |
| pt-BR | Portuguese (Brazil) | VKORC1 análise de mutação genética: Synonyms: Vitamin K epoxide reductase complex, subunit 1; |
| ru-RU | Russian (Russian Federation) | VKORC1 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | VKORC1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | VKORC1 基因 突变分析: Synonyms: VKCFD2; |
54451-0 CYP2C9 and VKORC1 [Interpretation] in Blood or Tissue by Molecular genetics method Narrative
Fully-Specified Name
- Component
- CYP2C9 & VKORC1
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nar
- Method
- Molgen
Additional Names
- Short Name
- CYP2C9 & VKORC1 Bld/T-Imp
- Display Name
- CYP2C9 and VKORC1 Molgen Nar (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Interpretation of CYP2C9 and VKORC1 test result, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.73
- 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
- 6922
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54450-2 | CYP2C9 and VKORC1 panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | CYP2C9 y VKORC1: |
| es-ES | Spanish (Spain) | CYP2C9 y VKORC1: |
| fr-FR | French (France) | CYP2C9 et VKORC1: |
| it-IT | Italian (Italy) | CYP2C9 & VKORC1: Synonyms: CYP2C9 e VKORC1 Farmacogenomica Genetica molecolare Impressione/interpretazione di studio Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | CYP2C9 & VKORC1: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | CYP2C9 & VKORC1: Synonyms: Interpretation; |
| ru-RU | Russian (Russian Federation) | CYP2C9 & VKORC1: Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Описательный Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | CYP2C9 ve VKORC1: |
| zh-CN | Chinese (China) | CYP2C9 与 VKORC1: Synonyms: 全血或组织; |