FISH analysis for Myelodysplastic Syndromes
| 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 MDS. 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: 5q 7q 8 centromere MECOM (EVI1) 20q 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 | N/A |
| Sample & container required | See notes section |
| Sample volume | Samples would not be rejected on the basis of small volume, however, 5 mL is ideal. |
| Turnaround time | MDS referrals are treated as routine; 95% should be reported within 21 calendar days according to national guidelines. Please note however that the average turn around for this category in our laboratory is approximately 12 days. |
| Notes | Sample required: Bone marrow in cytogenetic transport medium (preferred) or lithium heparin is usually the sample of choice. EDTA samples are only suitable in cases requiring FISH only (ie follow-up samples from patients with FISH-detectable abnormalities). If in doubt please use lithium heparin. Samples which are non-sterile, clotted or collected in sodium citrate, fixative or saline are not suitable. |