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Term Description

Mutations in the ACADVL gene are responsible for very long chain acyl-CoA dehydrogenase (VLCAD) deficiency. Diagnostic testing is performed for at-risk individuals who have symptoms of VLCAD deficiency. Testing may also be performed for carrier screening of at-risk individuals in cases where there is a family history of VLCAD deficiency, but an affected individual is not available for testing or disease-causing mutations have not been identified. The submitter's lab performs DNA sequencing test for the presence of a mutation(s) in all 20 coding exons of the ACADVL gene. The answer list provide with the term is an example and not an complete representation of mutations that may be found.

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

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 full mutation analysis:Prid:Pt:Bld/Tiss:Nom:Sequencing
Long Common Name
ACADVL gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
Short Name
ACADVL Full Mut Anl Bld/T Seq
Display Name
ACADVL gene full mutation analysis Sequencing Nom (Bld/Tiss)
Consumer Name Alpha Get Info
ACADVL gene variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    ACADVL gene full mutation analysis
    LP172690-2
    • Analyte
      ACADVL gene full mutation analysis
      LP172690-2
      • Component Numerator
        ACADVL gene full mutation analysis
        LP172690-2
        • Component Numerator Core
          ACADVL gene
          LP172689-4
        • Component Numerator Core Suffix
          full mutation analysis
          LP150044-8
      • 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
    Sequencing
    LP150045-5

Example Answer List: LL2953-9

Source: Regenstrief LOINC
AnswerCodeScoreAnswer ID
g.7126518A>C; rs118204015 SNPLA21298-7
g.7127184G>A; rs2309689 SNPLA21299-5
g.7128285C>T; rs118204014 SNPLA21300-1

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.63 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen ACADVL kompletní mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Sekvenace
el-GRGreek (Greece)Γονίδιο ACADVL πλήρης ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Αλληλούχιση
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο ACADVL Ιστός πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen ACADVL Análisis de mutación completa:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Secuenciación
es-MXSpanish (Mexico)Análisis de mutación completa del gen ACADVL:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Secuenciación
fr-FRFrench (France)ACADVL gène analyse complète des mutations:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Séquençage
it-ITItalian (Italy)ACADVL, gene Analisi di mutazione completa:Prid:Pt:Sangue/Tess:Nom:Sequenziamento
Synonyms: Gene ACADVL Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)ACADVL-gen volledige mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:sequencing
Synonyms: ACADVL gen
pl-PLPolish (Poland)ACADVL gen pełna analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:sekwencjonowanie
Synonyms: Gen ACADVL wynik kategorialny
pt-BRPortuguese (Brazil)ACADVL gene análise de mutação completa:Ident:Pt:Sg/Tecido:Nom:Sequenciamento
tr-TRTurkish (Turkey)ACADVL geni tam mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Sekanslama
Synonyms: Dizi tayini
zh-CNChinese (China)ACADVL 基因 全面突变分析:存在与否或特征标识:时间点:全血/组织:名义型:序列测定
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 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 存在;存在与否;特征标识;身份;身份标识 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=73735-3