BCR-ABL kinase domain mutation
Investigation : BCR-ABL kinase domain mutation
Specimen type : PB
Spec container : 4ml EDTA (LAVENDER) 
Volume required : 15 ml
Turnaround : 21 days
Samples should arrive within the laboratory within 72 hours of collection.

If sample cannot be sent immediately after bleeding, keep in 4 degree fridge and send as soon as possible.

Among patients with chronic phasechronic myeloid leukaemia (CML) who develop secondary resistance to imatinib, 30% to 50% have one or more BCR-ABL kinase domain mutations detectable by direct DNA sequencing, whereas mutation frequencies are higher in those with acceleratedor blast phases of disease. To date, at least 70 different mutations involving 57 differentamino acids have been reported in the BCR-ABL kinase domain. However, 7 mutated codons(G250, Y253, E255, T315, M351, F359, and H396) accountfor a cumulative 60% to 70%.

In patients with imatinib resistance due to ABL kinase domain mutations, use of alternative tyrosine kinase inhibitors (TKI) such as dasatinib, nilotinib, bosutinib and ponatinib might overcome some resistance depending on the different sensitivity of each mutant to the alternative TKI.

Contact HODS Molecular Biology Lab for further enquiries on Ext. 4326.


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