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Term Description

Mutations in the ACADVL gene are responsible for very long chain acyl-CoA dehydrogenase (VLCAD) deficiency. This term is used for carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the ACADVL gene.

Part Descriptions

LP172689-4   ACADVL gene
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). VLCAD deficiency is cause by mutations in the ACADVL gene, which are inherited in an autosomal recessive pattern. Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. Affected individuals are also at risk for serious complications such as liver abnormalities and life-threatening heart problems. When symptoms begin in adolescence or adulthood, they tend to be milder and usually do not involve the heart. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency

LP172689-4   ACADVL gene
The ACADVL gene (acyl-CoA dehydrogenase, very long chain) [HGNC Gene ID:92] is located on chromosome 17p13.1. The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] [NCBI Gene ID:37] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
ACADVL gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
ACADVL gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Short Name
ACADVL Fam Mut Anl Bld/T
Display Name
ACADVL gene familial mut analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
ACADVL gene familial variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    ACADVL gene mutation analysis limited to known familial mutations
    LP172691-0
    • Analyte
      ACADVL gene mutation analysis limited to known familial mutations
      LP172691-0
      • Component Numerator
        ACADVL gene mutation analysis limited to known familial mutations
        LP172691-0
        • Component Numerator Core
          ACADVL gene
          LP172689-4
        • Component Numerator Core Suffix
          mutation analysis limited to known familial mutations
          LP135775-7
      • 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
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.44
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

TagLanguageTranslation
cs-CZCzech (Czechia)Gen ACADVL mutační analýza omezená na známé familiární mutace:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο ACADVL ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις Γονίδιο Γονίδιο ACADVL Εύρεση Ιστός Μεταλλάξεις Μοριακή γενετική
es-ESSpanish (Spain)Gen ACADVL Análisis de mutaciones limitado al conocimiento de las mutaciones familiares:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones del gen ACADVL limitado a mutaciones familiares conocidas:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)ACADVL gène mutation recherche limitée aux mutations familiales connues:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)ACADVL, gene, analisi di mutazione limitata a mutazioni familiari note:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene ACADVL Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)ACADVL-gen mutatieanalyse gelimiteerd tot bekende familiaire mutaties:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: ACADVL gen molgen
pl-PLPolish (Poland)ACADVL gen analiza mutacji ograniczona do znanych rodzinnie występujących mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Gen ACADVL
pt-BRPortuguese (Brazil)ACADVL gene análise de mutação limitado a conhecidas mutações familiares:Ident:Pt:Sg/Tecido:Nar:Genética molecular
ru-RURussian (Russian Federation)ACADVL ген исследование на мутацию, ограниченный известными семейными мутациями:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)ACADVL geni mutasyon analizi, bilinen ailesel mutasyonlarla sınırlandırılmış:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)ACADVL 基因 局限于已知家族性突变的突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: NCBI NM_000018.2;ACAD6;LCACD;VLCAD;acyl-Coenzyme A dehydrogenase, very long chain;酰基-辅酶 A 脱氢酶, 极长链;酰基-CoA 脱氢酶, 极长链 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 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 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 受限 受限的 局部的 局限于已知家族性突变的基因突变分析;仅限于已知家族性突变的突变分析 时刻;随机;随意;瞬间 有界的 有限 有限的 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 血;血液 被限制的 遗传基因;遗传因子;吉恩;生物基因 限制的

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