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FISH, Myeloproliferative Neoplasms (MPN) (Eosinophilia)
Test Code90665
CPT Codes
88271 (x7), 88275 (x3)
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 collected in: Transport medium, sodium heparin (dark/royal blue-top) tube or sodium heparin lead free (tan-top) tube • Whole blood collected in: Sodium heparin (royal blue-top) tube or sodium heparin lead free (tan-top) tube • 5x5 mm fresh tumor tissue in transport medium • 5x5 mm tumor tissue in formalin-fixed, paraffin-embedded tissue block
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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Daily; Report available: 5-7 days
Clinical Significance
This FISH panel includes probes that target the PDGFRA (4q12), PDGFRB (5q33.1) and FGFR1 (8p11-12) loci. The probes included in this panel are constructed using the break apart strategy (fusion signal indicates an intact locus). This allows detection of rearrangements of PDGFRA, PDGFRB, and FGFR1 that result from translocations involving various chromosome regions (usually tyrosine kinase coding genes). Fusion of these receptors with a tyrosine kinase coding gene leads to kinase activation.
Rearrangements of PDGFRA, PDGFRB, and FGFR1 are found in a rare group of stem cell myeloid and lymphoid neoplasms that have in common the presence of eosinophilia and the involvement of genes that code for a tyrosine kinase. As such, detection of these rearrangements will help to properly diagnose and follow up of these patients. Furthermore, patients with activated tyrosine kinases are good candidates for tyrosine kinase inhibitors.
Rearrangements of PDGFRA, PDGFRB, and FGFR1 are found in a rare group of stem cell myeloid and lymphoid neoplasms that have in common the presence of eosinophilia and the involvement of genes that code for a tyrosine kinase. As such, detection of these rearrangements will help to properly diagnose and follow up of these patients. Furthermore, patients with activated tyrosine kinases are good candidates for tyrosine kinase inhibitors.
