Available tests Karyotyping; Fluorescence in situ hybridisation for: BCR-ABL to detect t(9;22) and variant/cryptic rearrangements in CML;
FIP1L1-CHIC2-PDGFRα to detect PDGFRα rearrangement in chronic eosinophilic leukaemia/hypereosinophilic syndrome;
FGFR1 in 8p11 myeloproliferative syndrome
Clinical details
The identification of BCR-ABL rearrangement is critical in establishing a diagnosis of chronic myeloid leukaemia (CML), and in identifying patients who are eligible for treatment with the tyrosine kinase inhibitors (TKI) imatinib, dasatinib and nilotinib. Cytogenetic monitoring of these patients to assess response to therapy is standard-of-care, and time to achieve complete cytogenetic remission has been shown to be predictive of long-term outcome and the possible need to switch therapy to an alternative TKI. In other myeloproliferative neoplasms (MPN), cytogenetic abnormalities detected can help in the establishment of a diagnosis of MPN, and can then be used in disease monitoring, where clonal evolution may indicate disease progression. Karyotype analysis is a requirement for a number of clinical trials. Certain specific abnormalities i.e. PDGFRα and FGFR1 rearrangement also identify patients who may respond to specific TKI's.
Peripheral blood, bone marrow 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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