ACADVL gene full mutation analysis:Prid:Pt:Bld/Tiss:Nom:Sequencing

Preferred Label : ACADVL gene full mutation analysis:Prid:Pt:Bld/Tiss:Nom:Sequencing;

LOINC status : ACTIVE;

LOINC display name : ACADVL gene full mutation analysis Sequencing Nom (Bld/Tiss);

LOINC long common name : ACADVL gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal;

LOINC short name : ACADVL Full Mut Anl Bld/T Seq;

LOINC 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.;

Details

Origin ID

73735-3;

UMLS CUI

C3654315;

Has component
- ACADVL gene [LOINC component]
- ACADVL gene full mutation analysis [LOINC component]
- Gene [LOINC component]
Has method
- Sequencing [LOINC method]
Has property
- Presence or Identity [LOINC Property]
Has scale
- Nom [LOINC scale]
Has system
- Blood [LOINC System]
- Blood or Tissue [LOINC System]
- Tissue and Smears [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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