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Malignancy - bone marrow and blood

Sample requirements

Full clinical information including suspected or confirmed diagnosis, stage of disease and sex of donor (if post-transplant) are required for the accurate interpretation of the cytogenetic result.

Please collect fresh bone marrow aspirate (well mixed) in either heparinised medium or a lithium heparin (green cap) tube. Transport medium is available from the Cytogenetics Department upon request.

For blood samples, a 2~4ml sample in a lithium heparin (green cap) tube is required.

For lymph node/tumour samples please see malignancy - other tissue types.

Samples should ideally be sent to the Cytogenetics Department on the same day/next day. Where a delay is inevitable (such as over weekends) please store the sample in a refrigerator before sending on the next working day. For sample labelling and completion of referral form criteria please see referral requirements.


Acceptance and rejection criteria

Bone marrow samples

For samples received in the wrong tube, or clotted/haemolysed upon receipt, processing is usually attempted as the sample is not easily repeatable. However this may compromise the success or quality of the test.


Blood samples - leukaemia patients

For urgent referrals, if received in the wrong tube, or clotted/haemolysed, processing is usually attempted, however this may compromise the success or quality of the test. For a routine referral, the sample may be rejected and a repeat sample requested. Alternatively, FISH testing may be attempted on these samples.

Please note, samples from patients with suspected TB cannot be processed, please see high risk samples.


Referral categories

Referrals may be at diagnosis, for routine monitoring, at disease progression or at relapse for:

  • Acute Myeloid Leukaemia (AML)
  • Acute Lymphoblastic Leukaemia (ALL)
  • Chronic Myeloid Leukaemia (CML)
  • Myelodysplastic Syndrome (MDS)
  • Myeloproliferative Neoplasia (MPD/MPN)
  • Chronic Lymphocytic Leukaemia (CLL)
  • Bone marrow infiltration by cells from Tumour


Multiple myeloma

Samples will be routinely processed for CD138 selection. Samples are only suitable for cell selection if there are more than 10% plasma cells present; in order for FISH to be completed. Karyotyping is not the appropriate cytogenetic test for myeloma referrals. Samples can be archived after cell selection, before FISH, on request by the clinicians, pending further information. 

Please note, samples should arrive at the laboratory ASAP from taking the sample and in particular should not be delayed over the weekend due to the deleterious effect on the CD138 cell selection process.


Tests available

Testing is determined by clinical indication.


The department offers karyotype analysis across most referral categories. FISH testing may be more appropriate for some categories, particularly when monitoring disease with a known abnormality.


We have a large number of FISH probes available in line with the test directory published on NHS England website. Please see our FISH Probe Haematology List.

Many FISH tests are applied at the discretion of the laboratory as either an adjunct to karyotyping or as a stand-alone test dependent on referral reason or karyotypic finding without a requirement for direct clinical request. Where additional FISH testing is required please indicate this or contact the Cytogenetics Department to discuss your requirements.


For new acute lymphoblastic leukaemia or aplastic anaemia referrals. For referrals where the diagnosis is unclear at sample receipt, DNA can be extracted and stored pending further information.

Reporting times

  • Urgent referrals - Final report 14 days, preliminary reports may be available earlier.
    • Acute leukaemia at diagnosis or relapse
    • Chronic myeloid leukaemia at diagnosis or disease progression
    • Clinical request
  • FISH for PML/RARA - preliminary FISH result within 3 days, follow up karyotype final report 14 days
  • Clinical Need - Final report 14 days
    • CLLs with therapy resistant disease TP53/ATM screen
  • Routine referrals - Final report 21 days
    • Monitoring referrals
    • MPD/MPN
    • MDS
    • Myeloma FISH referrals


Archived samples

Samples will be processed and archived if the reason for referral is non-specific or at clinical request. These samples will be re-activated for karyotype analysis or FISH by clinical request.

Lymphoma referrals will be archived pending information regarding bone marrow aspirate involvement but please note tumour tissue is more reliable in these cases.



Please see our malignancy limitations of testing.

Storage and future testing

Fixed material from all bone marrow and leukaemic blood referrals is stored after reporting for 10 years for possible future testing. DNA is stored indefinitely.

Page last updated 30/09/2021 by MC. Please note that if printed, the information is only valid on the day of printing.