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Malignancy - Haemato-oncology

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. For patients known to be new to this region, any previous cytogenetic results are essential.

Please collect fresh bone marrow aspirate (well mixed) in a lithium heparin (green cap) tube. 

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

Fluid (e.g. cerebrospinal fluid where neoplastic involvement suspected) should be sent in a sterile container.

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.

Please note, samples for myeloma should arrive at the laboratory ASAP from taking the sample (ideally by 3:30pm) and in particular should not be delayed over the weekend due to the deleterious effect on the CD138 cell selection process.


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)
  • Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN)
  • Acute Lymphoblastic Leukaemia (ALL)
  • Chronic Myeloid Leukaemia (CML)
  • Myelodysplastic Syndrome (MDS)
  • Myeloproliferative Neoplasia (MPN)), including ET, PV and PMF
  • Chronic Lymphocytic Leukaemia (CLL)
  • Hypereosinophilic syndrome (HES)
  • Juvenile Myelomonocytic leukaemia (JMML)
  • Chronic Myelomonocytic leukaemia (CMML)
  • Aplastic anaemia
  • Myeloma*
  • Bone marrow infiltration by cells from Tumour

Myeloma samples will be routinely processed for CD138 selection only. Samples are only suitable for cell selection if there are more than 10% plasma cells present.

For lymphoma samples, including Burkitts and DLBCL, please send FFPE slides for FISH analysis. Please see the solid tumour page for sample requirements.


Tests available

Testing is determined by clinical indication; please ensure all relevant information is included on the referral form so that the correct processes and tests are initiated. Testing is carried out in line with the test directory published on NHS England website and may include karyotype, FISH or array analysis. Please see our Haematology FISH probes for FISH tests available. Please contact the laboratory to speak to a Clinical Scientist if further information is required.


Reporting times

The table below shows our target reporting times. To see our current TAT data, please see - Service turnaround times - East Genomics


3 days

Preliminary FISH for PML::RARA in new APML, BCR::ABL1 in new CML or new ALL

7 days

Final report for karyotype and FISH in new AML

14 days

Final report for new CML and new ALL.

Karyotype/FISH for disease progression and relapse.

FISH for lymphoma, CLL.

21 days

Karyotype for MDS, MPN.

FISH for myeloma.

Routine monitoring referrals.

Samples may be processed more urgently upon clinical need, please contact the laboratory to discuss individual requests.


Archived samples

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

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



Please see our limitations of testing page.

Storage and future testing

Fixed material from all bone marrow and leukaemic blood referrals is stored after reporting for 10 years. DNA is stored indefinitely. Subsequent genetic testing can be requested at any time within these periods but may not be possible depending on the quality of the material available.

Page last updated 21/02/2024. Please note that if printed, the information is only valid on the day of printing.