94207-8
MMADHC 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 MMADHC gene. Testing may be performed for the diagnosis of methylmalonic acidemia with homocystinuria (type cblD).[GHR gene: MMADHC]
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
LP417408-4 MMADHC gene
The MMADHC gene (metabolism of cobalamin associated D) [HGNC Gene ID:25221] is located on chromosome 2q23.2. This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] [NCBI Gene ID:27249]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MMADHC gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- MMADHC Full Mut Anl Bld/T Seq
- Display Name
- MMADHC gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- MMADHC 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 MMADHC Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen MMADHC: |
| fr-FR | French (France) | MMADHC gène analyse complète des mutations: |
| it-IT | Italian (Italy) | MMADHC, gene Analisi di mutazione completa: Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | MMADHC-gen MMADHC-gen volledige mutatie-analyse: |
| zh-CN | Chinese (China) | MMADHC 基因 全面突变分析: Synonyms: Metabolism Of Cobalamin Associated D gene; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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LOINC Copyright
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