95777-9
ACADS 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
LP31884-7 ACADS gene
The ACADS gene (acyl-CoA dehydrogenase, C-2 to C-3 short chain) [HGNC Gene ID:90] is located on chromosome 12q24.31. This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014] [NCBI Gene ID:35]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- ACADS gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- ACADS gene Full Mut Anl Bld/T Seq
- Display Name
- ACADS gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- ACADS 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 ACADS Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen ACADS: |
fr-FR | French (France) | ACADS gène analyse complète des mutations: |
it-IT | Italian (Italy) | ACADS, gene Analisi di mutazione completa: Synonyms: Gene ACADS Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | ACADS-gen volledige mutatie-analyse: Synonyms: ACADS gen |
tr-TR | Turkish (Turkey) | ACADS geni tam mutasyon analizi: Synonyms: Dizi tayini |
zh-CN | Chinese (China) | ACADS 基因 全面突变分析: Synonyms: SCAD 基因; |
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=95777-9
LOINC Copyright
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