93420-8
APOA1 gene full mutation analysis in Blood or Tissue by Sequencing
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Term Description
The test includes sequence analysis of variants in all coding regions and intron/exon boundaries of the Apolipoprotein A-I (APOA1) gene. Testing is performed for the diagnosis of individuals suspected of having APOA1 gene-associated familial amyloidosis. The overall result summary (positive/negative) along with information about variant(s) identified, interpretation, testing method(s) and recommendations are typically included in the report.
Source: Regenstrief LOINC
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
LP411311-6 APOA1 gene
The APOA1 gene [HGNC Gene ID:600] is located on chromosome 11 at position q23.3. This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015][NCBI Gene ID:335]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- APOA1 gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- APOA1 Full Mut Anl Bld/T Seq
- Display Name
- APOA1 gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- APOA1 gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.67
- Last Updated
- Version 2.67
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen APOA1 Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen APOA1: |
fr-FR | French (France) | APOA1 gène analyse complète des mutations: |
it-IT | Italian (Italy) | APOA1, gene Analisi di mutazione completa: Synonyms: Gene APOA1 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | APOA1-gen volledige mutatie-analyse: |
zh-CN | Chinese (China) | APOA1 基因 全面突变分析: Synonyms: 临床文档型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=93420-8
LOINC Copyright
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