Cytogenetics (oncology)

Last updated: Monday, 06, August, 2007

MBS Online Search Page: Click here for details

Item Process

Consult pathologist prior to specimen collection.

All specimens must be transported to the laboratory immediately after collection.

Bone marrow aspirate: 1-2 mL in sterile, preservative-free heparin.

Peripheral blood (if sufficient abnormal cells are present): 10 mL in sterile, preservative-free heparin.

Lymph node or tumour biopsy: at least 1.5 cm diameter biopsy in sterile container, with sufficient tissue culture medium to cover the specimen.

Effusions (eg, ascites, pleural fluid): 5-30 mL in sterile container.


Direct preparation and/or short term cultures are generally used. Chronic lymphoproliferative disorders may require mitogen stimulation and 72 hour culture. Solid tumour specimens may require even longer culture times depending on the tumour type.

Results may take from 2 days to 3 weeks for completion. The type and duration of culture and the culture medium used may vary for the indication and specimen type.

Cytogenetic harvesting, slidemaking, banding and karyotyping are performed on all specimens. FISH may be used to identify specific DNA sequences. See also FISH (Fluorescence in situ hybridisation).


Haematological and solid malignancies, including Wilms' tumour, neuroblastoma, rhabdomyosarcoma, synovial sarcoma, and Ewing's sarcoma.

Diagnosis, assessment of prognosis, disease staging, monitoring response to therapy and detection of residual disease.


Findings are reported in terms of numerical and/or structural chromosome abnormalities (eg, deletions, translocations) - consult pathologist.

Non-random chromosome abnormalities occur in acute lymphoblastic leukaemia; acute myeloid leukaemia; chronic myeloid leukaemia and other myeloproliferative disorders; myelodysplasia; non-Hodgkin’s lymphoma; multiple myeloma and some solid tumours.


Rooney DE ed. Human Cytogenetics, Malignancy and Acquired Abnormalities, a Practical Approach. 3rd ed. Oxford University Press 2001.