72511-9
CYP2B6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Descriptions
LP157451-8 CYP2B6 gene
CYP2B6 gene encodes a member of the cytochrome P450 enzymes, which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. CYP2B6, along with CYP2A6, is involved with metabolizing nicotine as well as many other substances. Transcript variants for the CYP2B6 gene have been described, including 415A>G (*8), 516G>T (*9), 983T>C (*16), and 1459C>T(*5), and are associated with altered drug metabolism. CYP2B6 gene is found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, CYP2B6 (Wikipedia)
LP157451-8 CYP2B6 gene
The CYP2B6 gene (cytochrome P450, family 2, subfamily B, polypeptide 6) [HGNC Gene ID:2615] is located on chromosome 19q13.2. This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1555]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- CYP2B6 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- CYP2B6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- CYP2B6 Mut Anl Bld/T
- Display Name
- CYP2B6 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- CYP2B6 gene targeted mutation analysis, Blood or tissue specimen
Associated Observations
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue
LOINC | Name | R/O/C | Cardinality | Example UCUM Units |
---|---|---|---|---|
78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue | |||
Indent51963-7 | Medication assessed [ID] | |||
Indent48018-6 | Gene studied [ID] | |||
Indent48008-7 | Allele name [Identifier] | |||
Indent48013-7 | Genomic reference sequence [ID] | |||
Indent51958-7 | Transcript reference sequence [ID] | |||
Indent51971-0 | Gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method | |||
Indent51964-5 | Drug efficacy analysis overall interpretation |
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.42
- Last Updated
- Version 2.67
- 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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | gen CYP2B6 Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CYP2B6: |
fr-FR | French (France) | CYP2B6 gène mutation cible trouvée: |
it-IT | Italian (Italy) | CYP2B6, gene analisi di mutazione mirata: Synonyms: Farmacogenomica Gene CYP2B6 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | CYP2B6-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted |
pt-BR | Portuguese (Brazil) | CYP2B6 gene análise de mutação: |
ru-RU | Russian (Russian Federation) | CYP2B6 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | CYP2B6 geni Mutasyon analizi: |
zh-CN | Chinese (China) | CYP2B6 基因 突变分析: Synonyms: cytochrome P450, family 2, subfamily B, polypeptide 6; |
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=72511-9
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://