Fish Analysis, Chromosome 5 Enumeration

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Pseudonyms: Chromosome 5 loss, Deletion 5q, Monosomy 5, Myelodysplastic syndrome, MDS, t-MDS, Acute Myeloid Leukemia, AML, t-AML

TURNAROUND TIME: 7 to 10 days
TESTING METHODOLOGY: Fluorescence in situ hybridization (FISH) Analysis
  • 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 20-25oC ; 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
A Cytogenetics Laboratory Test Requisition must accompany the specimen. Contact the Cytogenetics Laboratory at 918-502-1722 to obtain further information.
Test Summary: Test can detect deletion of chromosome 7q or loss of chromosome 7 observed in some patients with myelodysplastic syndrome and AML; for diagnostic specimens, it is recommended that test be performed with chromosome analysis
Methods: 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; analysis of 500 interphase cells for minimal residual disease assessment
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 MDS or AML with an abnormality of chromosome 5. A negative result indicates no abnormality was observed but does not rule out the presence of a neoplastic disorder.
FDA Approval: This test is approved by the FDA for in vitro diagnostic testing
Indications for Use:
  • Patients with MDS or AML; establishing the percentage of neoplastic cells at diagnosis
  • Identifying patients with MDS or AML with an abnormality of chromosome 5
  • Monitoring the chromosome 5 abnormality during treatment