RRM2B gene full mutation analysis:Prid:Pt:Bld/Tiss:Nom:Sequencing

Preferred Label : RRM2B gene full mutation analysis:Prid:Pt:Bld/Tiss:Nom:Sequencing;

LOINC status : ACTIVE;

LOINC display name : RRM2B gene full mutation analysis Sequencing Nom (Bld/Tiss);

LOINC long common name : RRM2B gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal;

LOINC short name : RRM2B Full Mut Anl Bld/T Seq;

LOINC description : Detection of mutations in the RRM2B gene for the diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) and mitochondrial encephalomyopathy.;

Details

Origin ID

94080-9;

UMLS CUI

C5212657;

Has component
- Gene [LOINC component]
- RRM2B gene [LOINC component]
- RRM2B gene full mutation analysis [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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