93844-9
UGT1A1 gene full mutation analysis in Blood or Tissue by Sequencing
Active
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
LP31870-6 UGT1A1 gene
The UGT1A1 gene (UDP glucuronosyltransferase 1 family, polypeptide A1) [HGNC Gene ID:12530] is located on chromosome 2q37. This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008] [NCBI Gene ID:54658]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- UGT1A1 gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- UGT1A1 gene Full Mut Anl Bld/T Seq
- Display Name
- UGT1A1 gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- UGT1A1 gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.67
- Last Updated
- Version 2.67
- Change Reason
- Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen UGT1A1 Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen UGT1A1: |
fr-FR | French (France) | UGT1A1 gène analyse complète des mutations: |
it-IT | Italian (Italy) | UGT1A1, gene Analisi di mutazione completa: Synonyms: Farmacogenomica Gene UGT1A1 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | UGT1A1-gen volledige mutatie-analyse: Synonyms: UGT1A1 gen |
tr-TR | Turkish (Turkey) | UGT1A1 geni tam mutasyon analizi: Synonyms: Dizi tayini |
zh-CN | Chinese (China) | UGT1A1 基因 全面突变分析: Synonyms: Crigler-Najjar 综合征, I 型; |
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=93844-9
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright