Log In

Part Description

LP99726-9   PAX6 gene
The PAX6 gene (paired box 6) [HGNC Gene ID:8620] is located on chromosome 11p13. This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] [NCBI Gene ID:5080] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
PAX6 gene targeted mutation analysis:Arb:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
PAX6 gene targeted mutation analysis [Presence] in Blood or Tissue by Molecular genetics method
Short Name
PAX6 gene Mut Anl Bld/T Ql
Display Name
PAX6 gene targeted mutation analysis Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
PAX6 gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    PAX6 gene targeted mutation analysis
    LP229220-1
    • Analyte
      PAX6 gene targeted mutation analysis
      LP229220-1
      • Component Numerator
        PAX6 gene targeted mutation analysis
        LP229220-1
        • Component Numerator Core
          PAX6 gene
          LP99726-9
        • Component Numerator Core Suffix
          targeted mutation analysis
          LP32419-1
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Arb
    LP6781-1
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.32
Last Updated
Version 2.63 (MIN)
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
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen PAX6 cílená mutační analýza:Arbitrární:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο PAX6 στοχευμένη ανάλυση μεταλλάξεων:Arb:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: Arb MOLPATH MOLPATH.MUT Ord Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο PAX6 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen PAX6 Analisis de mutaciones:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen PAX6:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)PAX6 gène mutation cible trouvée:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)PAX6, gene analisi di mutazione mirata:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Gene PAX6 Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)PAX6-gen doelgerichte mutatie-analyse:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen PAX6 gen targeted
pl-PLPolish (Poland)PAX6 gen ukierunkowana analiza mutacji:jednostka umowna:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: Analiza mutacji genu PAX6 diagnostyka molekularna Gen PAX6
ru-RURussian (Russian Federation)PAX6 ген исследование на мутацию:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)PAX6 geni Mutasyon analizi:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CNChinese (China)PAX6 基因 突变分析:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: AN;AN2;D11S812E;MGC17209;MGDA;WAGR;paired box gene 6;成对框基因 6;配对盒基因 6;配对框基因 6 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 基因突变分析 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=59064-6