76032-2
SGSH 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
LP61789-1 SGSH gene
The SGSH gene is located on 17q25.3 and encodes N-sulphoglucosamine sulphohydrolase, a lysosomal enzyme that contributes to the lysosomal degradation of heparan sulfate. A mutation in the SGSH gene is associated with mucopolysaccharidosis type IIIA (MPSIIIA), also known as Sanfilippo syndrome A. MPSIIIA is characterized by severe central nervous system degeneration, and clinical symptoms usually become apparent between ages 2 and 6, with progressive neurologic degeneration between 6 and 10 years of age and death by age 30. [OMIM: 252900]
Source: Regenstrief LOINC,
OMIM: 252900
LP61789-1 SGSH gene
The SGSH gene (N-sulfoglucosamine sulfohydrolase) [HGNC Gene ID:10818] is located on chromosome 17q25.3. This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6448]
Source: National Center for Biotechnology Information (NCBI) Gene
LOINC Names Get Info
- Fully-Specified Name
- SGSH gene full mutation analysis:
Find: Pt: Bld/Tiss: Doc: Sequencing - Long Common Name
- SGSH gene full mutation analysis in Blood or Tissue by Sequencing
- Short Name
- SGSH gene Full Mut Anl Bld/T Seq
- Display Name
- SGSH gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- SGSH gene variant analysis, Blood or tissue specimen
Part Model Get Info
- Component
- SGSH gene full mutation analysis
LP229605-3
- Analyte
- SGSH gene full mutation analysis
LP229605-3
- Component Numerator
- SGSH gene full mutation analysis
LP229605-3
- Component Numerator Core
- SGSH gene
LP61789-1
- Component Numerator Core Suffix
- full mutation analysis
LP150044-8
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- Find
LP6813-2
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Bld/Tiss
LP7061-7
- System Core
- Bld/Tiss
LP7061-7
- Super System
- NULL
- Scale
- Doc
LP32888-7
- Method
- Sequencing
LP150045-5
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.50
- Last Updated
- Version 2.66 (MAJ)
- Change Reason
- Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Gen SGSH kompletní mutační analýza: |
| el-GR | Greek (Greece) | Γονίδιο SGSH πλήρης ανάλυση μεταλλάξεων: Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο SGSH Εύρεση Ιστός πλήρης ανάλυση μεταλλάξεων |
| es-ES | Spanish (Spain) | Gen SGSH Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen SGSH: |
| fr-FR | French (France) | SGSH gène analyse complète des mutations: |
| it-IT | Italian (Italy) | SGSH, gene Analisi di mutazione completa: Synonyms: Gene SGSH Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | SGSH-gen volledige mutatie-analyse: Synonyms: SGSH gen |
| pl-PL | Polish (Poland) | SGSH gen pełna analiza mutacji: Synonyms: Gen SGSH |
| tr-TR | Turkish (Turkey) | SGSH geni tam mutasyon analizi: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | SGSH 基因 全面突变分析: Synonyms: HSS; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://