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Myelodsyplasia Panel (MDS) by FISH

Test Code


Test Synonyms

EGR1 -5 /5q-, -7/7q-, +8, 20q-


Myelodsyplasia (MDS)


Fluorescence in situ Hybridization (FISH)
5p15.31 (D5S630,D5S2064)/5q31.2 (EGR1)
7q22 (D7S796,D7S658)/7q31.2 (D7S486)
CEP8 (D8Z2)/8q12.1-q12.2 (CHD7)
20q12 (D20S108)/20q13.12 (D20S43,D20S150)

Turnaround Time

3-5 days

Specimen Requirements

5mL peripheral blood in sodium heparin
3mL bone marrow in sodium heparin
Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid

Specimen Stability
Blood and bone marrow = 4°C to 25°C, specimens are stable up to 72 hours
Fixed cell pellets are stable for years when stored at -28°C to 15°C

Storage & Handling

4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.

Causes for Rejection

Clotted specimen; Specimens exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells;

Reference Range

See report


Clonal chromosome abnormalities are found at diagnosis in about 60% of patients with de novo MDS and almost 85% of those with AML or secondary MDS. The FISH profile used for detection of chromosome abnormalities in MDS and AML includes probes for chromosomes 5, 7, 8 and 20. Deletion of chromosome 5 is the most common structural abnormality in MDS and AML. The EGR1 probe is localized to 5q31 and detects both deletion of the long arm of 5 and monosomy 5.  Similarly, the D7S486 probe, which is located at 7q31, is designed to detect monosomy 7 and deletions of the long arm of 7. The CEP 8 probe detects trisomy 8, the most common numerical abnormality in MDS and AML. Finally, the probe for 20q12 will detect deletions of the long arm of chromosome 20. 

Complex karyotypes involving 3 or more of these chromosomes occur in approximately 5% of cases and will also be detected by this profile of probes. Detection of abnormalities involving 5, 7, 8, and 20 are important prognostic indicators in MDS and AML. FISH for these chromosome abnormalities can be performed on interphase or metaphase cells.

  1. Look A.T. (2005). Molecular Pathogenesis of MDS. Hematology. 1:156.
  2. Hofmann WK et al. (1996). Myelodysplastic syndromes: clinical features. Semin Hematol. 33(3):177.
  3. Flandrin G. (2002). Classification of myelodysplastic syndromes. Atlas Genet Cytogenet Oncol Haematol.