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Chromosome Analysis for Haematological Neoplasms

Category Specialist Integrated Haematological Malignancy Diagnostic Service (SIHMDS) >> Cytogenetics
Clinical Indications

Cytogenetic investigations of patients with haematological malignancies screen for chromosome abnormalities to elicit specific information about a patient’s disease, their prognosis and to assist in devising the most suitable management strategy. Subsequent analysis of follow up samples is used to monitor the effects of treatment and define disease remission.

Appropriate referral categories include (but are not limited to):

• Acute myeloid leukaemia (AML)

• Acute lymphoblastic leukaemia (ALL)

• MyeloproliferativeNeloplasm (MPN)

• Chronic myeloid leukaemia (CML)

• Myelodysplastic syndromes (MDS)

For some haematological malignancies gene or chromosome-specific fluorescence in-situ hybridization (FISH) analysis of dividing or non-dividing cells may be appropriate either in addition to, or instead of, conventional cytogenetic analysis. We will decide on the most appropriate test(s) on a case-by-case basis, even if this is not specified on the referral form. More detailed information on disease-specific FISH assays is accessible under “FISH tests for Haematological Neoplasms”.

Occasionally samples fail to yield metaphase cells for chromosome analysis. If relevant, FISH may be performed in such cases to investigate common abnormalities associated with a particular disease type.

Sample & container required Bone marrow in lithium heparin vacutainer is usually the sample of choice, but peripheral blood may be suitable if there are circulating blasts and/or a high white blood cell count or, if necessary, for confirmation of constitutional karyotype as part of leukaemic work up. Samples sent in EDTA are only suitable for FISH test. Samples which are non-sterile, clotted or collected in sodium citrate, fixative or saline etc., are not suitable for karyotyping. Also provide all clinical information in the request form to ensure appropriate analysis and interpretation.
Sample volume Samples would not be rejected on the basis of small volume, however, 5 mL is ideal.
Turnaround time Rapid FISH: All samples should be reported in 3 calendar days; Urgent FISH/ Karyotype: 95% should be reported within 14 calendar days; Routine FISH/Karyotype: 95% should be reported within 21 calendar days