HMBS gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing - CISMeF
HMBS gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:SequencingLOINC code
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];