ACADVL gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : ACADVL gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : ACADVL gene familial mut analysis Molgen Doc (Bld/Tiss);

LOINC long common name : ACADVL gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method;

LOINC short name : ACADVL Fam Mut Anl Bld/T;

LOINC 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.;

Details

Origin ID

73736-1;

UMLS CUI

C3654314;

Has component
- ACADVL gene [LOINC component]
- ACADVL gene mutation analysis limited to known familial mutations [LOINC component]
- Gene [LOINC component]
- Gene mutation analysis limited to known familial mutations [LOINC component]
- Mutations [LOINC component]
Has method
- Molecular genetics [LOINC method]
Has property
- Finding [LOINC Property]
Has scale
- Doc [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) :

You can consult :

recommendations
documents concerning education
documents for patients