94208-6
MLYCD gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Active
Term Description
Full gene sequence analysis of all coding regions and intron/exon boundaries of the MLYCD gene. Deletion/duplication analysis, such as by multiplex ligation probe amplification (MLPA), is also performed. Alterations in the MLYCD gene cause malonyl-coenzyme A decarboxylase (MCD) deficiency, a rare autosomal recessive inborn error of fatty acid metabolism.[GHR gene: MLYCD]
Source: Regenstrief LOINC
Part Description
LP417404-3 MLYCD gene
The MLYCD gene (malonyl-CoA decarboxylase) [HGNC Gene ID:7150] is located on chromosome 16q23.3. The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008] [NCBI Gene ID:23417]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MLYCD gene deletion+duplication & full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- MLYCD Del+Dup + Full Mut Anl Bld/T
- Display Name
- MLYCD gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- MLYCD 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 MLYCD estudio delecion+duplicacion y estudio mutacional completo: |
es-MX | Spanish (Mexico) | Eliminación del gen MLYCD + duplicación y análisis de mutación completo: |
fr-FR | French (France) | MLYCD gène délétion+duplication et analyse complète des mutations: |
it-IT | Italian (Italy) | MLYCD, gene Delezione+duplicazione & analisi di mutazione completa: Synonyms: delezione e duplicazione Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | MLYCD-gen deletie + duplicatie & volledige mutatie analyse: Synonyms: molgen |
zh-CN | Chinese (China) | MLYCD 基因 缺失+重复与全面的突变分析: Synonyms: 丙二酰基-CoA 脱羧酶基因; |
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LOINC Copyright
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