FISH ANALYSIS, MYELODYSPLASTIC SYNDROME (MDS) PROFILE
Pseudonyms: Myelodysplastic Syndrome Panel, MDS Panel, Myelodysplasia Panel, Myelodysplasia, MDS
TURNAROUND TIME: 7 to 10 days
TESTING METHODOLOGY: Fluorescence in situ hybridization
- Collect: 2 mL bone marrow aspirate in sodium heparin (green); 5 mL peripheral blood in sodium heparin (green) also acceptable
- Minimum Collection: 1 mL bone marrow or 2 mL peripheral blood
- Transport: bone marrow or peripheral blood in sodium heparin (green) at 20-25°C; specimen should arrive in the laboratory within 24 hours of collection
- Stability: Ambient: 24 hours; Refrigerated: 24 hours; Frozen: unacceptable
- Unacceptable Conditions: Frozen or clotted specimens; paraffin-embedded specimens; specimens in anticoagulants other than sodium heparin.
Test Summary: Probes included: EGR1, D7S486, D8Z1 and D20S108
A dual-color FISH analysis performed on interphase nuclei using probes for the D5S23 and D5S721 loci (5p15.2) and the EGR1 gene (5q31) which can detect deletions or duplications of the long arm of chromosome 5 and loss or gain of chromosome 5; analysis of 200 interphase cells.
A dual-color FISH analysis performed on interphase nuclei using probes for the ELN gene (7q11.23) and the D7S486 and D7S522 loci (7q31) which can detect deletions or duplications of the long arm of chromosome 7; analysis of 200 interphase cells
A single-color FISH analysis performed on interphase cells using the probe for the alpha-satellite region of chromosome 8 (D8Z1) which can detect loss or gain of chromosome 8; analysis of 200 interphase cells
A dual-color FISH analysis performed on interphase nuclei using probes for the 20p subtelomere and the D20S108 locus (20q12) which can detect deletions of the long arm of chromosome 20; analysis of 200 interphase cells
Interpretation: A positive result is reported when the percent of cells with an abnormality exceeds the normal reference range for the probes. The detection of an abnormal clone indicates a diagnosis of a myeloid malignancy with the specific chromosome abnormality. A negative result indicates no abnormality was observed but does not rule out the presence of a neoplastic disorder.
Reference Values: An interpretive report is provided for each probe set.
FDA Approval: This test is not approved by the FDA and it should used as an adjunct to other clinical and pathological information.
Indications for Use:
- Identify deletions of 5q and 7q, loss of chromosomes 5 and 7, trisomy 8 and deletion of 20q in patients with suspected MDS should be 3 indications for use.
- Aid in determining disease prognosis and treatment options.
- Track chromosome abnormality in patients with MDS.