91672-6

ABCB1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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.
Source: Regenstrief LOINC

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

Find

Time

Pt

System

Bld/Tiss

Scale

Doc

Method

Molgen

Additional Names

Short Name

ABCB1 Mut Anl Bld/T

Display Name

ABCB1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)

Consumer Name Alpha Get Info

ABCB1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class

MOLPATH.MUT

Type

Laboratory

First Released

Version 2.66

Last Updated

Version 2.66

Order vs. Observation

Both

Language Variants Get Info

Related Names

• ABC20
• ATP-binding cassette, sub-family B (MDR/TAP), member 1
• Blood
• CD243
• CLCS
• Document
• Finding
• Findings
• GP170
• MDR1
• MDR-1
• Molecular genetics
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• multidrug resistance protein 1
• Mut
• Mut Anl
• Mutations
• PCR
• P-GLYCOPROTEIN 1
• P-GP
• PGY1
• Point in time
• Random
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

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Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.