LOINC display name : ABL1 gene c.944C T Molgen Ql (Bld/BM);
LOINC long common name : ABL1 gene c.944C T [Presence] in Blood or Marrow by Molecular genetics method;
LOINC short name : ABL1 c.944C T Bld/Mar Ql;
LOINC description : Detection of the single-point mutation, T315I, in the ABL1 gene within the BCR-ABL1
fusion transcript. Early detection of T315I mutation in patient's with chronic myeloid
leukemia (CML) could inform alternative treatment before resistance is detected cytogenetically
or before disease progression become evident. Mutations in the kinase domain of the
BCR-ABL1 fusion are the leading cause of acquired imatinib resistance. Although mutations
have been identified in more than 30 different amino acids, the highest degree of
resistance is found to be associated with the T315I mutation.;