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

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

LOINC status : ACTIVE;

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

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

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

LOINC description : Full gene sequence analysis to identify a mutation in the coding regions and intron/exon boundaries of the MMACHC gene. This test is performed to confirm the diagnosis of cblC type of methylmalonic aciduria with homocystinuria and distinguishing between cblD and cblF types.[GHR gene: MMACHC];

Détails

Origin ID

94206-0;

UMLS CUI

C5381130;

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

Position du mot-clé dans l'(les) arborescence(s) :

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