94206-0
MMACHC gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Full gene sequence analysis to identify a mutation in the coding regions and intron/exon boundaries of the MMACHC gene. This test is performed to confirm the diagnosis of cblC type of methylmalonic aciduria with homocystinuria and distinguishing between cblD and cblF types.[GHR gene: MMACHC]
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
LP417406-8 MMACHC gene
The MMACHC gene (metabolism of cobalamin associated C) [HGNC Gene ID:24525] is located on chromosome 1p34.1. The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] [NCBI Gene ID:25974]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MMACHC gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- MMACHC Full Mut Anl Bld/T Seq
- Display Name
- MMACHC gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- MMACHC 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 MMACHC Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen MMACHC: |
fr-FR | French (France) | MMACHC gène analyse complète des mutations: |
it-IT | Italian (Italy) | MMACHC, gene Analisi di mutazione completa: Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | MMACHC-gen MMADHC-gen volledige mutatie-analyse: |
zh-CN | Chinese (China) | MMACHC 基因 全面突变分析: Synonyms: Metabolism Of Cobalamin Associated C gene; |
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LOINC Copyright
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