94195-5
CPT2 gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Full sequence analysis of the CPT2 gene is performed to confirm a patient's diagnosis of carnitine palmitoyltransferase II deficiency, an autosomal recessive disorder of long-chain fatty-acid oxidation. Testing may also be performed for carrier screening in cases where there is a family history of carnitine palmitoyltransferase II deficiency but disease-causing mutations have not been identified in an affected individual.
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
LP35632-6 CPT2 gene
The CPT2 gene (carnitine palmitoyltransferase 2) [HGNC Gene ID:2330] is located on chromosome 1p32. The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1376]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- CPT2 gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- CPT2 gene Full Mut Anl Bld/T Seq
- Display Name
- CPT2 gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- CPT2 gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen CPT2 Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen CPT2: |
| fr-FR | French (France) | CPT2 gène analyse complète des mutations: |
| it-IT | Italian (Italy) | CPT2, gene Analisi di mutazione completa: Synonyms: Gene CPT2 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | CPT2-gen volledige mutatie-analyse: Synonyms: CPT2 gen |
| tr-TR | Turkish (Turkey) | CPT2 geni tam mutasyon analizi: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | CPT2 基因 全面突变分析: Synonyms: CPT1; |
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LOINC Copyright
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