Available tests
Karyotyping;
Fluorescence in situ hybridisation for:
-AML1-ETO to detect t(8;21);
-PML-RARα to detect t(15;17);
-RARα to detect variant RARα rearrangements;
-CBFβ to detect inv(16)/t(16;16);
-MLL to detect 11q23 rearrangement;
-D5S23,D5S721/EGR1 to detect del(5q31)/-5;
-D7S486/CEP7 to detect del(7q31)/-7;
-D20S108 to detect del(20q);
-Chromosome 8 Alpha satellite to detect trisomy 8;
-EVI to detect inv(3)/t(3;3);
Clinical details
A number of sub-types of acute myeloid leukaemia are characterised by specific cytogenetic abnormalities, some of which have now been incorprorated into the WHO classification of AML and related precursor neoplasms. Current NCRI trial protocols for AML also incorporate these cytogenetic abnormalities in risk stratification of patients; consequently cytogenetic analysis at diagnosis is critical for optimum patient management, and these abnormalities are also then used to assess remission status and in disease monitoring.
Peripheral blood, bone marrow aspirate, pleural effusion, fine needle aspirate, 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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