CPT2 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing

Preferred Label : CPT2 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;

LOINC status : ACTIVE;

LOINC display name : CPT2 gene full mutation analysis Sequencing Doc (Bld/Tiss);

LOINC long common name : CPT2 gene full mutation analysis in Blood or Tissue by Sequencing;

LOINC short name : CPT2 gene Full Mut Anl Bld/T Seq;

LOINC description : Full sequence analysis of the CPT2 gene is performed to confirm a patient's diagnosis of carnitine palmitoyltransferase II deficiency, an autosomal recessive disorder of long-chain fatty-acid oxidation. Testing may also be performed for carrier screening in cases where there is a family history of carnitine palmitoyltransferase II deficiency but disease-causing mutations have not been identified in an affected individual.;

Details

Origin ID

94195-5;

UMLS CUI

C5381120;

Has component
- CPT2 gene [LOINC component]
- CPT2 gene full mutation analysis [LOINC component]
- Gene [LOINC component]
Has method
- Sequencing [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) :

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