The South East of Scotland Oncology Cytogenetics is a specialist regional service, which provides genetic testing to aid diagnosis of leukaemia and other tumours, to hospitals in Edinburgh, West Lothian, Fife and the Borders. Malignant diseases are often classified by their genetic abnormalities and certain cytogenetic tests are essential for the optimal diagnosis and treatment stratification of cancer patients.
Cytogenetic analysis is used to detect chromosome abnormalities in bone marrow, blood, fresh tumour samples and FFPE slides. Chromosome abnormalities can confirm a clonal disease and can often suggest a more specific diagnosis and prognosis. The abnormalities can be used to monitor remission and diagnose relapse, transformation or secondary disease. Increasingly, cytogenetic abnormalities indicate specific and targeted treatment regimes. Techniques used include chromosome analysis, Fluorescent in-situ hybridisation and Microarray analysis.
Referral Indications
The Cytogenetics Department will prepare and analyse the following samples as high priority. The priority rating is based on GENQA 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 autograph bone marrow transplant or allograph bone marrow transplant
- Aplastic anaemia
- Categories of lymphoma where cytogenetics are informative i.e. Burkitt’s Lymphoma, Mantle cell lymphoma, DLBCL, Follicular.
- Multiple Myeloma (isolation of CD138 cells from bone marrow samples of known myeloma)
All Fanconi Anaemia samples should be sent directly to the North of Scotland Molecular Service (click for address) and MUST be received within 5 days of sampling or they will be rejected. Referring clinicians must phone the laboratory on 01224550682 before sending.
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 are the tissue of choice to investigate patients suspected of having leukaemia or related haematological neoplasms. Please send in Saline Heparin provided by the laboratory*.
- Peripheral blood samples can be sent if disease cells are present in sufficient numbers to allow cell culture and/or FISH studies, as appropriate e.g. new diagnosis of ALL, AML or CML. Please send in Lithium Heparin tubes without beads. Blood is the preferred tissue for FISH studies in CLL, if there is peripheral blood lymphocytosis. Peripheral blood is not acceptable for myeloma.
- Paraffin Embedded Tissue for FISH on solid tissue, such as Lymphoma or Oligodendroglioma
- Fresh Tissue for array analysis from CNS tumours (oligodendroglioma) and neuroblastoma**.
We do not offer long term culture for a solid tumour karyotyping service
*Specimen Containers for Fresh Specimens: Saline heparin universal for sample transport are sent out from the lab on request. Please ensure that they are in date when sending a sample. Alternatively, if no saline heparin is available, bone marrow samples can be sent in Lithium Heparin (green top) blood tubes. Please indicate on the referral card that the sample is bone marrow. Use only heparinised containers. Please DO NOT use other anticoagulants such as EDTA, which is toxic to cells.
**Fresh tissue should be sent in tissue transport medium supplied, on request, by the laboratory.
Samples should be sent directly to the Cytogenetics laboratory in the Western General Hospital and should arrive by 3pm on the day of sampling to allow for processing. Samples awaiting a courier should be stored in the fridge (NOT Myelomas).
Suspected Multiple Myeloma samples for cell separation must arrive by 2pm. Samples arriving after 2pm on a Friday will be set up for culture only. Do not refrigerate sample as this may impair selection of CD138+ cells.
Optimal haematological cytogenetic analysis is achieved on short-term cell cultures therefor do not sent on samples on Fridays; if this cannot be avoided telephone the laboratory (0131 537 1156/1940) before sending the specimen.
The service on the weekend and public holidays is restricted.
Please see the Scottish Molecular Pathology Test Directory for details of Oncological testing in Scotland.
Details of Limitations of Cytogenetic investigations are available.
