PRSS1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing

Preferred Label : PRSS1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;

LOINC status : ACTIVE;

LOINC display name : PRSS1 gene full mutation analysis Sequencing Doc (Bld/Tiss);

LOINC long common name : PRSS1 gene full mutation analysis in Blood or Tissue by Sequencing;

LOINC short name : PRSS1 gene Full Mut Anl Bld/T Seq;

LOINC description : Full sequence analysis to test for the presence of a mutation in all coding regions and intron/exon boundaries of the PRSS1 gene. Testing is used to confirm the diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis and allow for predictive and diagnostic testing in affected family members.;

Details

Origin ID

94215-1;

UMLS CUI

C5381139;

Has component
- Gene [LOINC component]
- PRSS1 gene [LOINC component]
- PRSS1 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]

Keyword's position in hierarchy(ies) :

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