93842-3
HOGA1 gene full mutation analysis in Blood or Tissue by Sequencing
Active
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
LP411945-1 HOGA1 gene
The HOGA1 gene encodes 4-hydroxy-2-oxoglutarate aldolase (HOGA), a mitochondrial enzyme found in the liver and kidney that functions in hydroxyproline metabolism by processing 4-hydroxy-2-oxoglutarate into pyruvate and glyoxylate. Mutations in the HOGA1 gene result in primary hyperoxaluria type 3 (PH3), a disease presenting in the first decade of life with kidney stones due to hyperexcretion of oxylate. The two most common HOGA1 mutations, accounting for nearly 75% of all pathogenic variants c.944_946delAGG and c.700+5G>T [MedlinePlus Gene: HOGA1].
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- HOGA1 gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- HOGA1 Full Mut Anl Bld/T Seq
- Display Name
- HOGA1 gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- HOGA1 gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.67
- Last Updated
- Version 2.67
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen HOGA1 Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completo del gen HOGA1: |
fr-FR | French (France) | HOGA1 gène analyse complète des mutations: |
it-IT | Italian (Italy) | HOGA1, gene Analisi di mutazione completa: Synonyms: Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | HOGA1-gen volledige mutatie-analyse: |
zh-CN | Chinese (China) | HOGA1 基因 全面突变分析: Synonyms: 4-羟基-2-羟戊二酸醛缩酶 1 基因; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=93842-3
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright