" /> GBA gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing - CISMeF





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

LOINC status : ACTIVE;

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

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

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

LOINC description : Full gene sequence analysis is performed to test for the presence of a mutation in the GBA gene to confirm a diagnosis of Gaucher disease. Testing may also be performed on at-risk family members when there is a family history of Gaucher disease but a disease-causing mutation has not been previously identified.[GHR gene: GBA];

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27/07/2025


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