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

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

LOINC status : ACTIVE;

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

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

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

LOINC description : Full sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the NBTD gene to confirm a clinical diagnosis of biotinidase deficiency. Testing may also be performed on at-risk family members when there is a family history of biotinidase deficiency but a disease-causing mutation has not been previously identified.[GHR gene: NBTD];

Details

Origin ID

94242-5;

UMLS CUI

C5381165;

Has component
- BTD gene [LOINC component]
- BTD 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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