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





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];

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28/04/2025


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