LOINC display name : PKLR gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : PKLR gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular
genetics method;
LOINC short name : PKLR gene Del Dup Full Mut Anl Bld/T;
LOINC description : Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing)
and deletion/duplication analysis for the detection of variants and large deletions/duplications
in the PKLR gene in patients with low levels of erythrocytic PK enzymatic activity.
Testing is performed to aid in the diagnosis of pyruvate kinase (PK) deficiency.;
Has component