Specimen Collection
Bone
marrow aspirate
(minimum 2mL in preservative free heparin): Collection tubes are available on request from the Cytogenetics laboratory. Mix well to avoid clotting. KCH specimens need to be delivered to the laboratory within 45 minutes of collection.
Bone marrow trephine:
A single trephine specimen placed into transport media. Collection tubes containing transport media available on request from the Cytogenetics Laboratory. All trephine samples must be accompanied by a peripheral blood sample.
Peripheral blood:
4ml Heparin whole blood.
Turnaround Time: 2 weeks, 4 days
Urgent cases: 5 days
Assay Method
Samples are cultured and processed for G-banded Karyotype analysis and/or FISH testing. This provides whole-genome analysis detecting both numerical and structural abnormalities and permits the identification of clonal evolution and the presence of multiple clones.
The number of cells analysed and counted are based on the NPAAC guidelines.
Limitations: micro- deletions/duplications (below 5-10MB) and cryptic translocations may not be excluded.
Diagnostic Use and Interpretation
A G-banded karyotype is an essential component in the clinical management of haematological malignancies, as it helps with the diagnosis, classification and prognostication, as well as monitoring disease response to treatment.
Bone marrow is the preferred choice of tissue for the majority of neoplasms, it is only appropriate to use peripheral blood is there is a significant level of circulating disease. When the bone marrow aspirate is a dry or bloody tap, a bone marrow trephine sample should be considered.
Clinical details are essential so that the degree of urgency can be assessed and appropriate cell cultures and analysis carried out.
Chromosome analysis- Solid Tumours
Multiple myeloma FISH
Suspension FISH
Contact Information
To contact the Cytogenetics team:
Specimen Transport Instructions for Referring Laboratories
All samples must be collected using sterile technique
Same day delivery (8-24 degrees C)