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





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

LOINC status : ACTIVE;

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

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

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

LOINC description : Full gene sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the HMBS gene. Testing is performed to confirm a diagnosis of hydroxymethylbilane synthase deficiency/acute intermittent porphyria.[GHR gene: HMBS];

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28/04/2025


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