PDX1 gene full mutation analysis:Prid:Pt:Bld/Tiss:Nom:Sequencing

Preferred Label : PDX1 gene full mutation analysis:Prid:Pt:Bld/Tiss:Nom:Sequencing;

LOINC status : ACTIVE;

LOINC display name : PDX1 gene full mutation analysis Sequencing Nom (Bld/Tiss);

LOINC long common name : PDX1 gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal;

LOINC short name : PDX1 Full Mut Anl Bld/T Seq;

LOINC description : This test detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of the PDX1 (previously called IPF1) gene for the diagnosis of Maturity-Onset Diabetes of Young (MODY).;

Details

Origin ID

94078-3;

UMLS CUI

C5212653;

Has component
- Gene [LOINC component]
- PDX1 gene [LOINC component]
- PDX1 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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