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FISH analysis for Myeloproliferative Neoplasms

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

FISH involves the application of fluorescent DNA probes specific to genes or genetic regions of interest that highlight abnormalities involving these regions.

Clinical Indications

Conventional chromosome analysis is the gold standard for identification of the common, recurrent chromosome abnormalities in MPN. However, FISH is a useful adjuct to exclude common rearrangements in non-dividing cells and/or subtle rearrangements that could be missed by conventional analysis.

FISH probes commonly applied to MDS samples include, but are not limited to, the following:




Where possible, follow-up samples from patients with abnormal karyotypes are monitored by FISH only, unless frank relapse and/or disease progression are suspected, in which case conventional karyotyping will be performed in the first instance.

Reference range


Sample & container required A minimum of 2-3mls Bone marrow in lithium heparin.
3-5mls peripheral blood in lithium heparin (if disease cells are present in sufficient numbers to allow cell culture and/or FISH studies, as appropriate)

EDTA PB and BM samples (>1ml) are acceptable for FISH only studies as appropriate. Please note the laboratory does not provide transport medium. Samples sent in transport media from an external laboratory containing Lithium heparin will be accepted if no other media available
Sample volume Samples would not be rejected on the basis of small volume, however, 5 mL is ideal.
Turnaround time MPN referrals are treated as routine; 95% should be reported within 21 calendar days

If the blood counts are abnormal (high or low white cell count) the volumes of BM/PB requested can be adjusted accordingly. For culture (karyotyping) a WCC of 5×10^6 cells per ml is optimal.

Delayed samples:
Samples should arrive in the laboratory as soon as possible after sampling. Samples delayed in transit may yield poor quality or failed results.