LOINC display name : Alpha globin gene cluster and HS-40 region del and dup mutation analysis Molgen Doc
(Bld/Tiss);
LOINC long common name : Alpha globin gene cluster and HS-40 region deletion and duplication mutation analysis
in Blood or Tissue by Molecular genetics method;
LOINC short name : Alpha globin genes HS-40 Del Dup Bld/T;
LOINC description : This assay detects the dosage (deletion and duplication) of alpha globin genes, including
HBZ, HBM, HBA2, HBA1, HBQ1, located on the short (p) arm of chromosome 16 at position
13.3. The assay can also be used to detect the presence of deletions in the upstream
LCR/HS-40 regulatory region. Deletions of the HBA1 and/or HBA2 genes are the most
common cause of alpha thalassemia and in rare cases, mutations in or near these genes
can also cause the disease. [GHR condition: alpha-thalassemia];
Has component