" /> LDLR gene deletion duplication:Find:Pt:Bld/Tiss:Doc:MLPA - CISMeF





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

LOINC status : ACTIVE;

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

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

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

LOINC description : This term is used for testing the presence of large genomic duplications and deletions within the LDLR gene to aid in the diagnosis of familial hypercholesterolemia (FH).;

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30/07/2025


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