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LOINC Names Get Info

Fully-Specified Name
HADHA gene.c.1528G>C:Prid:Pt:Bld/Tiss:Nar:Molgen
Long Common Name
HADHA gene c.1528G>C [Identifier] in Blood or Tissue by Molecular genetics method Narrative
Short Name
HADHA c.1528G>C Bld/T
Display Name
HADHA gene c.1528G>C Molgen Nar (Bld/Tiss)
Consumer Name Alpha Get Info
HADHA gene c.1528G>C, Blood or tissue specimen

Part Model Get Info

  • Component
    HADHA gene.c.1528G>C
    LP31875-5
    • Analyte
      HADHA gene.c.1528G>C
      LP31875-5
      • Component Numerator
        HADHA gene.c.1528G>C
        LP31875-5
        • Component Numerator Core
          HADHA gene.c.1528G>C
          LP31875-5
        • Component Numerator Core Suffix
          NULL
           
      • 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
    Nar
    LP7749-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.10
Last Updated
Version 2.73 (MIN)
Change Reason
Changed Component part from g.G1528C to c.1528G>C to harmonize with HGVS nomenclature guidelines.
Order vs. Observation
Both
Common Test Rank Get Info
19902

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen HADHA c.1528G>C:Přítomnost nebo identita:Časový bod:Krev/tkáň:Narativní:Molekulární genetika
el-GRGreek (Greece)Γονίδιο HADHA c.1528G>C:Prid:Pt:Αίμα/Ιστός:Nar:Μοριακή γενετική
Synonyms: C MOLPATH MOLPATH.MUT Nar Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο HADHA c.1528G>C Ιστός Μοριακή γενετική
es-ARSpanish (Argentina)gen HADHA.G.análisis de mutación G1528C:presencia o identidad:punto en el tiempo:sangre entera/tejido:Narrativo:genética molecular
es-ESSpanish (Spain)Gen HADHA c. G1528C:Presencia o identidad:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
es-MXSpanish (Mexico)Gen HADHA c.1528G> C:Presencia o identidad:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
fr-FRFrench (France)HADHA gène mutation c.1528G>C:Identification:Ponctuel:Sang/Tissu:Résultat textuel:Biologie moléculaire
it-ITItalian (Italy)HADHA, gene.c.1528G>C:Prid:Pt:Sangue/Tess:Nar:Molgen
Synonyms: Gene HADHA c.1528G>C Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)HADHA 유전자.g.G1528C 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NLDutch (Netherlands)HADHA-gen.c.1528G>C:identificator:moment:bloed of weefsel:tekstueel:moleculair genetisch onderzoek
Synonyms: HADHA gen.c.1528G>C molgen
pl-PLPolish (Poland)HADHA gen.c.1528G>C:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:opisowy:genetyka molekularna
Synonyms: diagnostyka molekularna Gen HADHA c.1528G>C
pt-BRPortuguese (Brazil)HADHA gene.Gg1528C análise da mutação:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: ; HADHA g.G1528C; LCHAD deficiency; GBP; HADH; MTPA; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)HADHA ген.c.1528G>C:ПрИд:ТчкВрм:Кр/Тк:Опис:МолГен
Synonyms: Кровь Кровь или Ткань Описательный Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)HADHA geni.c.1528G>C:MevcKimlik:Zmlı:Kan/Dk:Öykü:Molgen
zh-CNChinese (China)HADHA 基因.c.1528G>C:存在与否或特征标识:时间点:全血/组织:叙述型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 GBP;HADH;HADHA g.G1528C;LCHAD;LCHAD 缺乏;LCHAD 缺乏症;LCHAD 缺陷;LCHAD 缺陷症;Long chain hydmxyacyl CoA dehydmgenase deficiency;MTPA;长链羟化酰基 CoA 脱氢酶缺乏症;长链羟化酰基辅酶 A 脱氢酶缺乏症 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 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 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

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