Mutation Assay : ABL Kinase Domain

Description: CML is a haematopoietic stem cell disease characterised by the 9:22 translocation, which fuses BCR gene with the ABL gene. Imatinib is a 2-phenylamino pyrimidine that targets the ATP binding site of the ABL kinase domain and is a very effective drug for the majority of CML patients. However, proportions of patients respond partially or acquire clinical resistance after achieving a response. One of the mechanisms for resistance is the presence/acquisition of one or more point mutations' in the ABL kinase domain region, the section that interacts and binds the Imatinib molecule. Mutations have been demonstrated in the catalytic and activation domains but the mutations tend to cluster in the highly conserved P loop region. A particular mutation, the T315I, produces complete resistance to Imatinib while some of the other mutations confer partial resistance and can be negated by an escalating dose regime. Patients with P-loop mutations tend to have a poor overall survival. Therefore it is necessary to examine the presence and type of mutations in patients who lack or show low level of response.

Sample type and volume required: 1-5 ml Bone marrow and/or 20ml peripheral blood in EDTA (purple top) tube. Presence of heparin anticoagulant will inhibit PCR applications. Clotted samples are unsuitable for RNA analysis. Samples must be clearly labelled with the patient's first name, surname, D.O.B, hospital number and the date the sample was taken.

Storage and transport: To be sent within 2 days and stored at room temperature. First class postage is adequate but samples must be shipped with packaging appropriate for UN 3373 samples following packing instruction 650. See link below for further details. http://www.dft.gov.uk Samples should be addressed to: Central Specimen Reception, Ground Floor, Bessemer Wing, King's College Hospital, Denmark Hill, London SE5 9RS, United Kingdom

Last updated: 19 June 2026