Imperial Collage Healthcare

Cytogenetic investigation


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 Required
Bone marrow is usually the sample of choice, but peripheral blood in lithium heparin (green top) 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 a leukaemic work up.Peripheral blood in EDTA (lavender top) is only suitable for samples requiring FISH tests alone.Samples which are non-sterile, clotted or collected in sodium citrate, fixative or saline are not suitable.


Sample Volume
Samples would not be rejected on the basis of small volume, however, 5 mL is ideal.


Turnaround Time
• Urgent referrals (acute leukaemia and CML) 95 % should be reported within 14 calendar days• Rapid test by FISH 95 % should be reported within 3 working days• Routine referrals 95 % should be reported within 21 calendar days


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