Available tests Karyotyping; Fluorescence in situ hybridisation for: BCR-ABL to detect t(9;22); TEL-AML1 (ETV6-RUNX1) to detect t(12;21) and iAMP21; MLL to detect 11q23 rearrangement; MLL-AFF1 to detect t(4;11); TCF3(E2A) to detect t(1;19)/ t(17;19); PAX5 & ETV6 to detect dic(9;12); CDKN2A(9p21)/CEP9 to detect del(9p)
Clinical details
Cytogenetic analysis in B-cell acute lymphoblastic leukaemia (B-ALL) is utilised to aid in diagnosis and to identify prognostic markers which are used to direct patient management, some of which have now been incorprorated into the WHO classification of precursor lymphoid neoplasms.
Current National Cancer Research Institute clinical trials for B-ALL also use cytogenetically-defined markers in risk stratification and to determine trial eligibility. Cytogenetic markers identified at diagnosis can then also be used in assessment of remission status and in disease monitoring.
Peripheral blood, bone marrow aspirate, pleural effusion, fine needle aspirate, FFPE tissue sections, as appropriate, minimum volume as available
Storage and transport
Peripheral blood in lithium heparin or bone marrow transport medium. All other samples in bone marrow transport medium. Do not spindown or freeze samples before sending. Samples must arrive within 24 hours
Turnaround time
Current service turnaround times: Urgent 1-7 calendar days; Non-urgent 5-10 calendar days; National targets: Urgent samples 95% reported within 14 days; Non-urgent 95% reported within 21 days
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