81642-1
CYP3A4 and CYP3A5 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method
Active
81139-8 CYP3A4 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
Term Description
The patient's CYP3A4 gene allelic genotype (e.g. *1/*22) based on analysis of multiple variants within the CYP3A4 gene, including c.-392A>G (*1B, rs2740574) and the intron 6 C>T polymorphism (rs35599367, *22).
Source: Regenstrief LOINC
Part Descriptions
LP417570-1 CYP3A4 gene allele
Cytochrome P450 3A4 (abbreviated CYP3A4) is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Over 30 single nucleotide polymorphisms (SNPs) have been identified in this gene, most of which are not clinically significant. Few have been found to decrease catalytic activity with certain ligands, including testosterone and nifedipine, in comparison to wild-type metabolism. Examples of these alleles and associated SNPs include CYP3A4*6 (an A17776 insertion), CYP3A4*17 (15615T>C) and CYP3A4*22 (15389C>T). A full list of alleles, nucleotide changes and their described enzymatic activity can be found at http://www.cypalleles.ki.se/cyp3a4.htm.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- CYP3A4 gene allele
- Property
- Geno
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CYP3A4 allele Geno Bld/T
- Display Name
- CYP3A4 gene allele genotype Molgen (Bld/Tiss)
- Consumer Name Alpha Get Info
- CYP3A4 gene allele genotype, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.56
- 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. CYP3A4*1/*22), which was the original intent for this term.; Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 9797
Example Answer List LL3935-5
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| CYP3A4*1/*1 | LA25988-9 | ||
| CYP3A4*1/*22 | LA25989-7 | ||
| CYP3A4*22/*22 | LA25990-5 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81642-1 | CYP3A4 and CYP3A5 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Alelo del gen CYP3A4: |
| es-ES | Spanish (Spain) | Alelo del gen CYP3A4: |
| fr-FR | French (France) | CYP3A4 gène allèle: |
| it-IT | Italian (Italy) | CYP3A4, gene allele: Synonyms: Farmacogenomica Gene CYP3A4 Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | CYP3A4-allel: Synonyms: CYP3A4 gen molgen |
| zh-CN | Chinese (China) | CYP3A4 基因等位基因: Synonyms: 全血或组织; |
81140-6 CYP3A5 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
Term Description
The patient's CYP3A5 gene allelic genotype (e.g. *1/*6) based on analysis of multiple variants within the CYP3A5 gene, such as g.27289C>A (rs28365083, *2) , 6986A>G (rs776746, *3), 14690G>A (rs10264272. *6) and 27131-27132insT (rs76293380. *7).
Source: Regenstrief LOINC
Part Descriptions
LP417571-9 CYP3A5 gene allele
Cytochrome P450-3A5 (CYP3A5; [HGNC Gene ID: 2638]), a member of the cytochrome P450 mixed-function oxidase system, is involved in the metabolism many drugs in current clinical use. Genetic variations in CYP3A5 can affect the response (i.e., efficacy or toxicity) to drugs metabolized by CYP3A5 and selection of alternative dosing or agents may be necessary in individuals with specific CYP3A5 genetic variations. PMID: 25801146 See https://www.pharmgkb.org/gene/PA131 for more information and dosing guidelines for drugs impacted by CYP3A5 genetic variation.
Source: Clinical Pharmacogenetics Implementation Consortium
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- CYP3A5 gene allele
- Property
- Geno
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CYP3A5 allele Geno Bld/T
- Display Name
- CYP3A5 gene allele genotype Molgen (Bld/Tiss)
- Consumer Name Alpha Get Info
- CYP3A5 gene allele genotype, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.56
- 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. CYP3A5*1/*6), which was the original intent for this term.; Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 9798
Example Answer List LL2543-8
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| CYP3A5*1/*1 | LA25991-3 | ||
| CYP3A5*1/*2 | LA20131-1 | ||
| CYP3A5*1/*3 | LA20127-9 | ||
| CYP3A5*1/*6 | LA25995-4 | ||
| CYP3A5*3/*3 | LA20132-9 | ||
| CYP3A5*3/*5 | LA20133-7 | ||
| CYP3A5*3/*6 | LA25998-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81642-1 | CYP3A4 and CYP3A5 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Alelo del gen CYP3A5: |
| es-ES | Spanish (Spain) | Alelo del gen CYP3A5: |
| fr-FR | French (France) | CYP3A5 gène allèle: |
| it-IT | Italian (Italy) | CYP3A5, gene allele: Synonyms: Farmacogenomica Gene CYP3A5 Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | CYP3A5-allel: Synonyms: molgen |
| zh-CN | Chinese (China) | CYP3A5 基因等位基因: Synonyms: EC 1.14.14.1; |
79717-5 CYP3A5 gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method
Term Description
The CYP3A5 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 CYP3A5 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 Descriptions
LP202922-3 CYP3A5 gene product metabolic activity interpretation
Cytochrome P450-3A5 (CYP3A5; [HGNC Gene ID: 2638]), a member of the cytochrome P450 mixed-function oxidase system, is involved in the metabolism many drugs in current clinical use. Genetic variations in CYP3A5 can affect the response (i.e., efficacy or toxicity) to drugs metabolized by CYP3A5 and selection of alternative dosing or agents may be necessary in individuals with specific CYP3A5 genetic variations. PMID: 25801146 See https://www.pharmgkb.org/gene/PA131 for more information and dosing guidelines for drugs impacted by CYP3A5 genetic variation.
Source: Clinical Pharmacogenetics Implementation Consortium
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- CYP3A5 gene product metabolic activity interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- CYP3A5 gene prod met act imp Bld/T-Imp
- Display Name
- CYP3A5 gene product metabolic activity interpretation Molgen Ql (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- CYP3A5 gene product metabolic activity interpretation, Blood or tissue specimen
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
- 14689
Preferred Answer List LL3856-3
| 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 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81642-1 | CYP3A4 and CYP3A5 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen CYP3A5 interpretation de la actividad en el metabolismo de fármacos: |
| es-MX | Spanish (Mexico) | Interpretación de la actividad metabólica del producto del gen CYP3A5: |
| fr-FR | French (France) | CYP3A5 gène activité métabolique interprétation: |
| it-IT | Italian (Italy) | Interpretazione dell'attività metabolica del gene CYP3A5: Synonyms: Farmacogenomica Gene CYP3A5 Genetica molecolare Impressione/interpretazione di studio Interpretazione dell''attività metabolica del gene Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | CYP3A5-gen product metabole activiteit interpretatie: Synonyms: CYP3A5 gen product metabole activiteit interpretatie molgen |
| tr-TR | Turkish (Turkey) | CYP3A5 geni ürünü metabolik aktivite yorumu: |
| zh-CN | Chinese (China) | CYP3A5 基因产物新陈代谢活性解释: Synonyms: CYP3A5 基因产物新陈代谢（代谢）活性解释（说明、 |
51971-0 Gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method
Term Description
Overall predicted phenotype for drug metabolism for all markers and/or individual alleles identified in a single case.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Gene product metabolic activity interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- Gene prod met act imp Bld/T-Imp
- Display Name
- Gene product metabolic activity interpretation Molgen Ql (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Gene product metabolic activity interpretation, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Change Reason
- Release 2.67: COMPONENT: Updated Component to align existing terms for reporting gene product metabolic activity (phenotype) based on input from the Clinical Pharmacogenetics Implementation Consortium (CPIC).; AnswerListId: Updated Preferred Answer List based on input from the Clinical Pharmacogenetics Implementation Consortium (CPIC).; Previous Releases: Corrected Scale from "Nom" to "Ord" since drug metabolism phenotypes are ordinal.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 13494
Preferred Answer List LL3856-3
| 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 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81642-1 | CYP3A4 and CYP3A5 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method |
| 55233-1 | Genetic analysis master panel |
| 51962-9 | Pharmacogenetic DNA analysis panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Interpretación de la actividad metabólica del producto genético: |
| es-MX | Spanish (Mexico) | Interpretación de la actividad metabólica del producto genético: |
| fr-FR | French (France) | Gène activité produit métabolique interprétation: |
| it-IT | Italian (Italy) | Gene, interpretazione dell'attività metabolica: Synonyms: Farmacogenomica Genetica molecolare Impressione/interpretazione di studio Interpretazione dell''attività metabolica del gene Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| pt-BR | Portuguese (Brazil) | Interpretação global da análise do Metabolismo da droga: Synonyms: Interp; |
| zh-CN | Chinese (China) | 基因产物新陈代谢活性解释: Synonyms: 代谢作用; |
81146-3 CYP3A4 and CYP3A5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Part Descriptions
LP207795-8 CYP3A4 & CYP3A5 gene
This testing provides genotypes for CYP3A4 and CYP3A5 and determines the estimated metabolic activity. CYP3A4 and CYP3A5 cytochrome P450 enzymes are involved in the hepatic metabolism of up to 50% of all clinically used drugs. There is wide variation in enzyme activity, particularly for CYP3A4 (10-100 fold), due to both genetic and non-genetic factors. The cause of much of the variation is not yet understood. The CYP3A4 and CYP3A5 enzymes have a high degree of similarity (85% amino acid sequence homology) and they metabolism largely the same set of drugs, Though many use the CYP3A4 pathway predominantly. Genotype and metabolic activity for CYP3A4 and CYP3A5 should therefore be considered together when assessing possible effects on drug response. CYP3A4 *22 decreases enzyme activity, and is present in ~8% of Caucasians. CYP3A5 *3 is a non-functional allele, so CYPA5 *3/*3 homozygotes are non-expressors of CYP3A5. CYP3A5 *3 is the predominant CYP3A5 allele in Caucasians (prevalence of ~92%) and therefore most Caucasians have reduced or absent CYP3A5 metabolism. CYP3A5 *6 and *7 lead to decreased enzyme activity. CYP3A5 *6 and *7 are present in 11-12% of Asians and African Americans, but are essentially absent in Caucasians (frequency of 0.1%). CYP3A4 *22 is typically associated with increased response to statins (lovastatin, simvastatin, and atorvastatin), with lower doses required to gain optimal response. For CYP3A5, poor metabolizers are typically expected to require standard dosing of tacrolimus. Intermediate or extensive metabolizers are expected to require a higher starting dose of tacrolimus. Fentanyl is a key pain medication that is metabolized by CYP3A4/3A5. The CYP3A5 *3 variant has decreased clearance of this active drug. Patients with the CYP3A5 *3/*3 genotype have a higher risk of adverse events than patients with one or two *1 alleles. However, CYP3A genotype and clinical variables (delivery rate, gender, co-medications, kidney disease, BMI and serum albumin) account for less than 50% of the wide variability in serum fentanyl concentration between patients with transdermal fentanyl treatment.
Source: LOINC partner 1
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- CYP3A4 & CYP3A5 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- CYP3A4 + CYP3A5 gene Mut Anl Bld/T
- Display Name
- CYP3A4 and CYP3A5 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- CYP3A4 and CYP3A5 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.56
- 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
- Both
- Common Test Rank Get Info
- 18006
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81642-1 | CYP3A4 and CYP3A5 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: CYP3A4/A5 Genotypisierung |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CYP3A4 y CYP3A5: |
| es-ES | Spanish (Spain) | Gen CYP3A4 y CYP3A5 Analisis de mutaciones: |
| fr-FR | French (France) | CYP3A4 et CYP3A5 gènes mutations ciblées trouvée: |
| it-IT | Italian (Italy) | CYP3A4 & CYP3A5, gene analisi di mutazione mirata: Synonyms: Farmacogenomica Gene CYP3A4 e CYP3A5 Gene CYP3A5 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | CYP3A4 & CYP3A5-gen doelgerichte mutatie-analyse: Synonyms: CYP3A4 & |
| zh-CN | Chinese (China) | CYP3A4 与 CYP3A5 基因 突变分析: Synonyms: EC 1.14.14.1; |