ACVRL1 gene ENG gene deletion duplication:Find:Pt:Bld/Tiss:Doc:MLPA

Preferred Label : ACVRL1 gene ENG gene deletion duplication:Find:Pt:Bld/Tiss:Doc:MLPA;

LOINC status : ACTIVE;

LOINC display name : ACVRL1 gene ENG gene del and dup mutation analysis MLPA Doc (Bld/Tiss);

LOINC long common name : ACVRL1 gene ENG gene deletion and duplication mutation analysis in Blood or Tissue by MLPA;

LOINC short name : ACVRL1 ENG gene Del Dup Bld/T MLPA;

LOINC description : This term is used for testing the presence of large genomic duplications and deletions within the ACVRL1 and ENG genes, which are commonly associated with hereditary hemorrhagic telangiectasia (HHT).;

Details

Origin ID

69481-0;

UMLS CUI

C3481668;

Has component
- ACVRL1 gene [LOINC component]
- ACVRL1 gene+ENG gene [LOINC component]
- ACVRL1 gene+ENG gene deletion+duplication [LOINC component]
- ENG gene [LOINC component]
- Gene [LOINC component]
Has method
- MLPA [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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