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Cytogenetic investigation

Category Specialist Integrated Haematological Malignancy Diagnostic Service (SIHMDS) >> Cytogenetics
Test background

Cytogenetic investigations look for abnormalities in the chromosomes of patients with haematological malignancies, in order to elicit specific information about each patient's disease and their prognosis, and to devise the most suitable treatment plan.

Clinical Indications

The following malignancies can be diagnosed and monitored: acute myeloid leukaemia (AML) acute lymphoblastic leukaemia (ALL) myeloproliferative disorders (MPD), including chronic myeloid leukaemia (CML) chronic lymphocytic leukaemia (CLL) myelodysplastic syndromes (MDS) CD138 plasma cell selection for plasma cell neoplasms, such as multiple myeloma (MM).

Sample & container required Bone marrow in lithium heparin vacutainer is usually the sample of choice, but peripheral blood may be suitable if there are circulating blasts and/or a high white blood cell count or, if necessary, for confirmation of constitutional karyotype as part of leukaemic work up. Samples sent in EDTA are only suitable for FISH test. Samples which are non-sterile, clotted or collected in sodium citrate, fixative or saline etc.,are not suitable for karyotyping. Also provide all clinical information in the request form to ensure appropriate analysis and interpretation.
Sample volume Samples would not be rejected on the basis of small volume; however > 2-3mL is ideal.
Turnaround time

Rapid FISH - 95% should be reported within 3 calendar days

Urgent FISH (Diagnostic AML) - 95% should be reported within 5 calendar days

Urgent FISH - 95% should be reported within 14 calendar days

Routine FISH - 95% should be reported within 21 calendar days