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





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

LOINC status : ACTIVE;

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

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

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

LOINC description : Full gene sequence analysis is performed to detect the presence of a mutation in the coding regions and intron/exon boundaries of the CPOX (coproporphyrinogen oxidase) gene. Mutations in this gene can cause two types of porphyria: hereditary coproporphyria (HCP) and a variant known as harderoporphyria.[GHR gene: CPOX];

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30/04/2025


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