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FISH, HES/Leukemia, 4q12 Rearrangement (FIP1L1-PDGFRA)
Test Code16837
CPT Codes
88271 (x3), 88275
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
Sodium heparin (royal blue-top), sodium heparin lead-free (tan-top) tube • 5 x 5 mm tumor tissue collected in a transport medium • Formalin-fixed, paraffin-embedded tissue
Instructions
Bone marrow: 1-3 mL in transport medium (preferred) or sodium heparin tube.
3-5 mL whole blood in sodium heparin tubes. Green, dark/royal blue or tan top tubes are acceptable containers for this test. Formalin-fixed, paraffin-embedded block and fresh tumor tissue samples are also acceptable.
3-5 mL whole blood in sodium heparin tubes. Green, dark/royal blue or tan top tubes are acceptable containers for this test. Formalin-fixed, paraffin-embedded block and fresh tumor tissue samples are also acceptable.
Transport Temperature
Room temperature
Specimen Stability
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
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
A.M.
Clinical Significance
FIP1L1-PDGFRa fusion (rearrangement of 4q12; interstitial deletion of CHIC2 region) is observed in diverse eosinophilia-associated hematologic disorders. The cases with FIP1L1-PDGFRa fusion show an excellent response to the tyrosine kinase inhibitor imatinib mesylate (Metzgeroth et al, 2007)
