Patients with haematological disorders require an accurate diagnosis of their condition, which is assessed by morphology, immunophenotyping and cytogenetics. Different chromosomal abnormalities occur in patients with these diseases, and some abnormalities are very specific to certain disease types, such as the translocation t(15;17) in acute promyelocytic leukaemia, and the translocation t(8;14) in mature B cell acute lymphoblastic leukaemia. Some abnormalities will indicate a good prognosis, whereas others will herald a poor prognosis. These parameters are important when tailoring treatment for the patient. Monitoring the patient following treatment and/or transplant is also essential in order to establish the extent of remission, both haematological and cytogenetic.
Testing site
Synnovis : Genomics : King's College Hospital
Laboratory
SE-HMDS Cytogenetics
Sample type and volume required
Bone marrow aspirate in specially provided transport medium (2 ml) or peripheral blood in a lithium heparin tube (5ml), (if blast cells are present in sufficient numbers) are the samples of choice. For patients with suspected lymphoma, a lymph node biopsy is preferable to be placed in the transport medium as above. For patients with suspected CLL, testing is usually preferred on a peripheral blood sample.
Storage and transport
Ideally, the sample should arrive in the laboratory the same day as sampling occurs to prevent loss of viability. However, if a delay is anticipated in transportation, the samples should be stored in the fridge at 4°C. Alternatively, first class post is also accepted for samples which have a long distance to travel.
Turnaround time
AML, ALL, CML - within 3 working days MDS, MPD - within 5 working days CLL and lymphoma - within 8 working days Myelomas - within 10 to 15 working days
Cost
Please contact Business Development for pricing enquiries
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