95781-1
ATP7B gene full mutation analysis in Blood or Tissue by Sequencing
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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
LP19656-5 ATP7B gene
The ATP7B gene (ATPase, Cu++ transporting, beta polypeptide) [HGNC Gene ID:870] is located on chromosome 13q14.3. This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008] [NCBI Gene ID:540]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- ATP7B gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- ATP7B gene Full Mut Anl Bld/T Seq
- Display Name
- ATP7B gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- ATP7B gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.69
- Last Updated
- Version 2.69
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen ATP7B Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen ATP7B: |
fr-FR | French (France) | ATP7B gène analyse complète des mutations: |
it-IT | Italian (Italy) | ATP7B, gene Analisi di mutazione completa: Synonyms: Gene ATP7B Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | ATP7B-gen volledige mutatie-analyse: Synonyms: ATP7B gen |
tr-TR | Turkish (Turkey) | ATP7B geni tam mutasyon analizi: Synonyms: Dizi tayini |
zh-CN | Chinese (China) | ATP7B 基因 全面突变分析: Synonyms: ATP 酶基因; |
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=95781-1
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright