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Part Descriptions

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

LOINC Names Get Info

Fully-Specified Name
IDUA gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
IDUA gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
IDUA gene Mut Bld/T Mut Anl
Display Name
IDUA gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
IDUA gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    IDUA gene mutations
    LP452161-5
    • Analyte
      IDUA gene mutations
      LP452161-5
      • Component Numerator
        IDUA gene mutations
        LP452161-5
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.83 (NAM)
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen IDUA cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο IDUA στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο IDUA Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen IDUA:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ESSpanish (Spain)Gen IDUA Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)IDUA gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)IDUA, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene IDUA Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)IDUA-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: IDUA gen molgen targeted
pl-PLPolish (Poland)IDUA gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu IDUA diagnostyka molekularna Gen IDUA wynik kategorialny
pt-BRPortuguese (Brazil)IDUA análise de mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)IDUA ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)IDUA geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)IDUA 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
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- 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 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 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=57983-9