GJB3 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : GJB3 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : GJB3 gene targeted mutation analysis Molgen Doc (Bld/Tiss);

LOINC long common name : GJB3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method;

LOINC short name : GJB3 gene Mut Anl Bld/T;

LOINC description : Multiple variants or mutations within the gap junction protein, beta 3 (GJB3) gene are associated with Sensorineural Hearing Loss (SNHL). This term was created for, but not limited to, Asper Biotech's Sensorineural Hearing Loss (SNHL) microarray test. This test is a targeted mutation analysis for the following variants with the GJB3 gene: c.421A G (rs74315320), c.421_423delATT, c.538C T (rs74315319), c.547G A (rs74315318), and c.667C A.;

Details

Origin ID

71358-6;

UMLS CUI

C3483285;

Has component
- GJB3 gene [LOINC component]
- GJB3 gene targeted mutation analysis [LOINC component]
- Gene [LOINC component]
Has method
- Molecular genetics [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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