95550-0
LaboratoryABL1 gene c.944C>T [Presence] in Blood or Marrow by Molecular genetics method
Definition
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.
LOINC 6-Axis Classification
Component
ABL1 gene.c.944C>T
Property
PrThr
Time Aspect
Pt
System
Bld/Bone mar
Scale Type
Ord
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
ABL1 c.944C>T Bld/Mar Ql
Display Name
ABL1 gene c.944C>T Molgen Ql (Bld/BM)
Related Names
Frequently Asked Questions
What is LOINC code 95550-0?
LOINC code 95550-0 identifies "ABL1 gene c.944C>T [Presence] in Blood or Marrow by Molecular genetics method". 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.
What does 95550-0 measure?
This code measures ABL1 gene.c.944C>T in Bld/Bone mar. It belongs to the MOLPATH.MUT class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.