76030-6
IDS 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
LP186142-8 IDS gene
The IDS gene is located on chromosome Xq28 and encodes iduronate 2-sulfatase, a lysososomal enzyme involved in glycosaminoglycan metabolism. IDS gene mutations are associated with mucopolysaccharidosis II (MPSII), also known as Hunter syndrome. Hunter syndrome is an X-linked disorder with severe and attenuated forms. The severe form is characterized by severe airway obstruction, skeletal deformities, cardiomyopathy, neurologic decline, and death by age 20, while the attenuated form is more variable and can be associated with a normal life expectancy. [OMIM: 309900]
Source: Regenstrief LOINC,
OMIM: 309900
LP186142-8 IDS gene
The IDS gene (iduronate 2-sulfatase) [HGNC Gene ID:5389] is located on chromosome Xq28. The protein encoded by this gene belongs to the sulfatase family, is localized to the lysosome, and is involved in lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease, mucopolysaccharidosis type II, also known as Hunter syndrome. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2013] [NCBI Gene ID:3423]
Source: National Center for Biotechnology Information (NCBI) Gene
LOINC Names Get Info
- Fully-Specified Name
- IDS gene full mutation analysis:
Find: Pt: Bld/Tiss: Doc: Sequencing - Long Common Name
- IDS gene full mutation analysis in Blood or Tissue by Sequencing
- Short Name
- IDS gene Full Mut Anl Bld/T Seq
- Display Name
- IDS gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- IDS gene variant analysis, Blood or tissue specimen
Part Model Get Info
- Component
- IDS gene full mutation analysis
LP228700-3
- Analyte
- IDS gene full mutation analysis
LP228700-3
- Component Numerator
- IDS gene full mutation analysis
LP228700-3
- Component Numerator Core
- IDS gene
LP186142-8
- 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 |
|---|---|---|
| ar-JO | Arabic (Jordan) | فحص الطفرات الكاملة لجين IDS في الدم أو الأنسجة ( بتقنية التسلسل ) |
| cs-CZ | Czech (Czechia) | Gen IDS kompletní mutační analýza: |
| el-GR | Greek (Greece) | Γονίδιο IDS πλήρης ανάλυση μεταλλάξεων: Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο IDS Εύρεση Ιστός πλήρης ανάλυση μεταλλάξεων |
| es-ES | Spanish (Spain) | Gen IDS Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen IDS: |
| fr-FR | French (France) | IDS gène analyse complète des mutations: |
| it-IT | Italian (Italy) | IDS, gene Analisi di mutazione completa: Synonyms: Gene IDS Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | IDS-gen volledige mutatie-analyse: Synonyms: IDS gen |
| pl-PL | Polish (Poland) | IDS gen pełna analiza mutacji: Synonyms: Gen IDS |
| tr-TR | Turkish (Turkey) | IDS geni tam mutasyon analizi: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | IDS 基因 全面突变分析: Synonyms: 临床文档型; |
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://