74004-3
ABCB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Term Description
ABCB1 (MDR1) gene mutation analysis is performed on patients who present with ineffectiveness or toxicity to certain drugs (protein MDR1 substrates). The patient's genotype is used to predict expression and activity of MDR1 enzymes (that regulate the transport of many drugs) and to determine appropriate treatment and drug dosage.
Part Descriptions
LP156997-1 ABCB1 gene
ABCB1 (also known as MDR1) is one of many ubiquitous adenosine triphosphate (ATP)-binding cassette (ABC) genes. ABCB1 encodes a transmembrane transporter, P-glycoprotein (P-gp), and plays a role in cell defense against environmental attacks. Many polymorphisms have been reported in this gene, including 1236C>T (rs1128503) in exon 12, 2677G>T (rs2032582) in exon 21 and 3435C>T (rs1045642) in exon 26. The 2677G>T variant is associated with a 2.6 fold higher risk of developing lung cancer. Individuals homozygous for the 2677G>T variant and heterozygous for the 3435C>T variant have up to a 20 fold higher risk of developing lung cancer.
Source: Regenstrief LOINC
, PMID: 17120199
LP156997-1 ABCB1 gene
The ABCB1 gene (ATP-binding cassette, sub-family B (MDR/TAP), member 1) [HGNC Gene ID:40] is located on chromosome 7q21.12. The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5243]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- ABCB1 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- ABCB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- ABCB1 Mut Anl Bld/T
- Display Name
- ABCB1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- ABCB1 gene targeted mutation analysis, Blood or tissue specimen
Example Answer List: LL2539-6
Source: Regenstrief LOINC| Answer | Code | Score | Answer ID |
|---|---|---|---|
| rs1128503 C/C | LA20117-0 | ||
| rs1128503 C/T | LA20119-6 | ||
| rs1128503 T/T | LA20120-4 | ||
| rs2032582 G/G | LA20121-2 | ||
| rs2032582 G/T | LA20122-0 | ||
| rs2032582 T/T | LA20123-8 | ||
| rs1045642 C/C | LA20124-6 | ||
| rs1045642 C/T | LA20125-3 | ||
| rs1045642 T/T | LA20126-1 | ||
| rs2032583 C/C | LA29699-8 | ||
| rs2032583 T/C | LA29697-2 | ||
| rs2032583 T/T | LA29698-0 | ||
| rs2235015 G/G | LA29702-0 | ||
| rs2235015 T/G | LA29701-2 | ||
| rs2235015 T/T | LA29700-4 |
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.46
- Last Updated
- Version 2.63 (MIN)
- Change Reason
- 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
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο ABCB1 στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Prid Γονίδιο Γονίδιο ABCB1 |
| es-ES | Spanish (Spain) | Gen ABCB1 (MDR1) Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen ABCB1: |
| fr-FR | French (France) | ABCB1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | ABCB1, gene analisi di mutazione mirata: Synonyms: Gene ABCB1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | ABCB1-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted |
| pt-BR | Portuguese (Brazil) | ABCB1 gene análise de mutação: |
| ru-RU | Russian (Russian Federation) | ABCB1 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | ABCB1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | ABCB1 基因 突变分析: Synonyms: P-gp; |
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=74004-3
LOINC Copyright
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