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FISH ANALYSIS, ACUTE LYMPHOCYTIC LEUKEMIA (ALL) PROFILE, PEDIATRIC
Pseudonyms: B-cell Acute Lymphocytic Leukemia, B-cell ALL, ALL
TURNAROUND TIME: 7 to 10 days
TESTING METHODOLOGY: Fluorescence in situ hybridization
SPECIMEN REQUIREMENTS:
- 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
A Cytogenetics Laboratory Test Requisition must accompany the specimen. Contact the Cytogenetics Laboratory at 918-502-1722 to obtain further information.
INTERPRETIVE DATA:
Test Summary: Probes included: BCR/ABL, ETV6/RUNX1 (TEL/AML1), MLL, CEP4, CEP10, CEP17
Related Tests: Chromosome Analysis, Bone Marrow; Chromosome-specific Interphase FISH
Methods: A dual-color, dual-fusion FISH analysis performed on interphase cells using a probe for the BCR gene on chromosome 22q11.2 and a probe for the ABL1 gene on chromosome 9q34; analysis of 200 interphase cells; analysis of 500 interphase cells for minimal residual disease assessment.
A dual-color, dual-fusion FISH analysis performed on interphase cells using a probe for the ETV6 (TEL) gene on chromosome 12p13 and a probe for the RUNX1 (AML1) gene on chromosome 21q22; analysis of 200 interphase cells; analysis of 500 interphase cells for minimal residual disease assessment.
A dual-color, break-apart FISH analysis performed on interphase cells using probes for 5' and 3' ends of the MLL gene on chromosome 11q23; analysis of 200 interphase cells; analysis of 500 interphase cells for minimal residual disease assessment.
A triple-color FISH analysis performed on interphase nuclei using the CEP4, CEP10 and CEP17 probes for the centromeres of chromosomes 4, 10 and 17 (D4Z1, D10Z1, and D17Z1); 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 B-cell ALL 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:
- Patients with B-cell ALL; establish the percentage of neoplastic cells at diagnosis
- Identify patients with B-cell ALL who have a 9;22 translocation, a 12;21 translocation, rearrangement of the MLL gene, trisomy 4, trisomy 10 or trisomy 17
- Provide prognostic indicators for patients with B-cell ALL
- Evaluate specimens in which standard cytogenetic analysis is unsuccessful or results are normal
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