BPGM gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing - CISMeF
BPGM gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:SequencingLOINC code
Preferred Label : BPGM gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;
LOINC status : ACTIVE;
LOINC display name : BPGM gene full mutation analysis Sequencing Doc (Bld/Tiss);
LOINC long common name : BPGM gene full mutation analysis in Blood or Tissue by Sequencing;
LOINC short name : BPGM Full Mut Anl Bld/T Seq;
LOINC description : Full gene sequence analysis is performed to test for the presence of a mutation in
the coding regions and intron/exon boundaries of the BPGM gene. Mutations in this
gene result in a deficiency of 2,3-bisphosphoglycerate (2,3-BPG) and can cause hereditary
erythrocytosis.[GHR gene: BPGM];