Version 2.80

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

LP97942-4   IDUA gene
The IDUA gene, located on chromosome 4p16.3, encodes alpha-L-iduronidase, a lysosomal enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. Mutations in the IDUA gene lead to alpha-L-iduronidase deficiency, which is associated with mucopolysaccharidosis type I (MPSI). MPSI has 3 forms: IH (Hurler syndrome), IH/S (Hurler-Scheie syndrome), and IS (Scheie syndrome). Hurler syndrome is the most severe form of MPSI, is usually diagnosed in the first year of life, and is characterized by hepatosplenomegaly, corneal clouding, and severe cognitive delay. Patients with Hurler syndrome typically die before the age of 10. In contrast, Hurler-Scheie and Scheie syndromes are usually diagnosed later in childhood or adulthood and have little, if any, cognitive delay. [UniProt: P35475] Source: Regenstrief LOINC , UniProt: P35475

LP97942-4   IDUA gene
The IDUA gene (iduronidase, alpha-L-) [HGNC Gene ID:5391] is located on chromosome 4p16.3. This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008] [NCBI Gene ID:3425] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
IDUA gene full mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Sequencing

Additional Names

Long Common Name
IDUA gene full mutation analysis in Blood or Tissue by Sequencing
Short Name
IDUA gene Full Mut Anl Bld/T Seq
Display Name
IDUA gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
IDUA gene variant analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.73 (MIN)
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
Common Test Rank Get Info
19140

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο IDUA πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Γονίδιο Γονίδιο IDUA Εύρεση
es-ES Spanish (Spain) Gen IDUA Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación completa del gen IDUA:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FR French (France) IDUA gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-IT Italian (Italy) IDUA, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Gene IDUA Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) IDUA-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: IDUA gen
tr-TR Turkish (Turkey) IDUA geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) IDUA 基因 全面突变分析:发现:时间点:全血/组织:文档型:序列测定
Synonyms: IDA;MPS1;alpha-L-iduronidase;iduronidase, alpha-L-;alpha-L-艾杜糖苷酶;艾杜糖苷酶, alpha-L-;alpha-L-艾杜糖醛酸酶;艾杜糖醛酸酶, alpha-L-;α-L-艾杜糖苷酶;艾杜糖苷酶, α-L-;α-L-艾杜糖醛酸酶;艾杜糖醛酸酶, α-L- 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 完整突变分析;综合突变分析 序列分析;测序 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=76028-0