94190-6
BPGM gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the BPGM gene. Mutations in this gene result in a deficiency of 2,3-bisphosphoglycerate (2,3-BPG) and can cause hereditary erythrocytosis.[GHR gene: BPGM]
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
LP417384-7 BPGM gene
The BPGM gene (bisphosphoglycerate mutase) [HGNC Gene ID:1093] is located on chromosome 7q33. 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009] [NCBI Gene ID:669]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- BPGM gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- BPGM Full Mut Anl Bld/T Seq
- Display Name
- BPGM gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- BPGM 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 BPGM Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen BPGM: |
| fr-FR | French (France) | BPGM gène analyse complète des mutations: |
| it-IT | Italian (Italy) | BPGM, gene Analisi di mutazione completa: Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | BPGM-gen volledige mutatie-analyse: |
| zh-CN | Chinese (China) | BPGM 基因 全面突变分析: Synonyms: 临床文档型; |
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LOINC Copyright
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