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FISH, ALL/MPD, 9p21/+9 Deletion
Test Code16120
CPT Codes
88275, 88271 (x2)
Preferred Specimen
3 mL bone marrow or 5 mL whole blood collected in a sodium heparin (green-top) tube
Minimum Volume
1 mL bone marrow • 3 mL whole blood
Other Acceptable Specimens
Bone marrow or whole blood collected in: sodium heparin (royal blue-top) tube, or (tan-top, lead-free) tube • Bone marrow in culture transport media
Instructions
Clinical history and reason for referral are required with test order. Prior therapy and transplant history should be provided with test order.
Submit 1 to 3 mL of bone marrow or 3 to 5 mL whole blood in a sodium heparin (green-top) tube. Bone marrow culture transport medium available upon request.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Note: 100-300 interphase cells are microscopically scored for the number of probe signals to determine the copy number for 9p21 and centromere 9.
This test may be replaced with a Cytogenetics Communication, if a communication is required.
Submit 1 to 3 mL of bone marrow or 3 to 5 mL whole blood in a sodium heparin (green-top) tube. Bone marrow culture transport medium available upon request.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Note: 100-300 interphase cells are microscopically scored for the number of probe signals to determine the copy number for 9p21 and centromere 9.
This test may be replaced with a Cytogenetics Communication, if a communication is required.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: See Instructions
Refrigerated: See Instructions
Frozen: See instructions
Refrigerated: See Instructions
Frozen: See instructions
Methodology
Fluorescence in situ Hybridization (FISH)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Daily; Report available 5 days
Reference Range
Interpretive report
Clinical Significance
Deletions of 9p21 region are found mainly in acute lymphoblastic leukemia (ALL), occurring in approximately 10% of both pediatric and adult cases. The deletion is an adverse risk factor for B-lineage ALL, but not for T-lineage. Trisomy 9 and additional copies of 9p, due to unbalanced chromosome rearrangements, are recurrent abnormalities in chronic myeloproliferative disorders (MPD), including polycythemia vera, essential thrombocythemia, and myelofibrosis.