95775-3
HGSNAT 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
LP420048-3 HGSNAT gene
The HGSNAT gene [HGNC Gene ID: 26527] is located on chromosome 8 between positions 11.21 and 11.1. This gene encodes the heparan-alpha-glucosaminide N-acetyltransferase enzyme, also known as N-acetyltransferase, which is present in lysosomes and involved in the degradation of glycosaminoglycans (GAGs). Over 50 mutations have been found in the HGSNAT gene and are known to cause mucopolysaccharidosis type IIIC (MPS IIIC). The mutations lead to a reduction or elimination of functional N-acetyltransferase.[MedlinePlus Gene: HGSNAT]
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- HGSNAT gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- HGSNAT Full Mut Anl Bld/T Seq
- Display Name
- HGSNAT gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- HGSNAT gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.69
- Last Updated
- Version 2.69
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen HGSNAT Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen HGSNAT: |
fr-FR | French (France) | HGSNAT gène analyse complète des mutations: |
it-IT | Italian (Italy) | HGSNAT, gene Analisi di mutazione completa: Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | HGSNAT-gen volledige mutatie-analyse: |
zh-CN | Chinese (China) | HGSNAT 基因 全面突变分析: Synonyms: 临床文档型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=95775-3
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright