Head Of Section:  Jennifer Fleming

Telephone 0131 537 2998

The Oncology Cytogenetics Section provides a comprehensive cytogenetics service for the detection and monitoring of acquired chromosome abnormalities in the bone marrow and blood of patients with leukaemia.

Indications: Specimen requirements: Reporting Times

Acquired chromosome abnormalities are observed in the bone marrow and blood of patients with leukaemia.  The detection and accurate description of these aberrations is critical to the correct clinical management of these patients. A typical example of an acquired rearrangement is the Philadelphia rearrangement seen in Chronic Myeloid Leukaemia.  The presence of the t(9:22) translocation results in the production of a novel gene with malignant potential. 

Specimens also undergo a range of tests including Cytogenetic (G-banded chromosome analysis) and Cytogenomics (FISH).

Referral Indications

The Cytogenetics Department will prepare and analyse the following samples as high priority.  The priority rating is based on UK CEQAS Guidelines. (Please indicate if the patient has been entered into a clinical trial.)

  • Acute Leukaemia (AML and ALL)                                                    
  • Chronic Myeloid Leukaemia
  • Myelodysplasia
  • Myeloproliferative disorders
  • Patients undergoing bone marrow transplant or marrow autotransplant
  • Aplastic anaemia
  • Categories of lymphoma where cytogenetics are informative  i.e. Burkitt’s Lymphoma, Mantle cell lymphoma.

For other sample types please refer here, or phone the department to discuss.

Referring clinicians are requested to comply with NHS Lothian policy on Mandatory Data Sets:  Failure to do so will result in delays in processing or rejection of the sample.

Specimen Requirements

Bone marrow specimens should be sent in saline heparin tubes which are prepared in the Cytogenetics Department Western General Hospital.  Peripheral blood samples should be sent in lithium heparin tubes without beads.  

Samples should be sent directly to the Cytogenetics laboratory in the Western General Hospital. To allow time for processing the specimens, they should preferably arrive at the Department by 3pm on the day on which the sample is taken. Please do not refrigerate sample.

Optimal haematological cytogenetic analysis is achieved on short-term cell cultures. We request that samples are not sent on Fridays; if this cannot be avoided telephone the laboratory (0131 537 2984/1940) before sending the specimen.

The service on the weekend and public holidays is restricted.

Reporting Times

 The reporting time guidelines as specified by the UK CEQAS Quality Assessment Scheme are as follows.   


14 days  


21 days  

The results from high priority new cases will be telephoned to the referring clinician.



Last Reviewed: 19/04/2017