Genetic abnormalities that involve the PDGFRA gene cause a type of blood cell cancer called PDGFRA-associated chronic eosinophilic leukemia. The most common of these genetic abnormalities is a deletion of genetic material from chromosome 4 that brings together parts of two genes, FIP1L1 and PDGFRA, creating the FIP1L1-PDGFRA fusion gene. Occasionally, genes other than FIP1L1 are fused with the PDGFRA gene via a translocation between chromosome 4q12 and a partner chromosome. This gene is also involved in systemic mastocytosis and chronic eosinophilic leukemia.  Patients carrying the FIP1L1-PDGFRA fusion show an excellent response to low-dose imatinib mesylate therapy.

This test can be ordered individually or as part of an Eosinophilia FISH Panel. See the individual panel test for more details.

Bone marrow aspirate:

Collect bone marrow aspirate in a sterile Sodium heparin (Na hep) syringe and transfer to a sterile vial/tube

- or -

Collect bone marrow in sterile syringe (non-heparinized) and transfer to a Dk green Sodium heparin (Na hep), no gel

Transfer aspirate from syringe to transport container. 

Submit entire specimen unspun

Sterile vial/tube

or

Dk green Sodium heparin (Na hep), no gel

Bone marrow core:

Submit in sterile tube/cup filled with sterile culture medium, sterile Hanks Balance Salt Solution (HBSS) or sterile saline

Whole blood:

Dk green Sodium heparin (Na hep), no gel

Immediately following collection, mix sample thoroughly by gently inverting 8 - 10 times to prevent clotting.

Submit entire specimen unspun

Bone marrow core:

Sterile tube/cup

Whole blood:

Dk green Sodium heparin (Na hep), no gel

AHL Cytogenetics Oncology Request

Ambient

• Improper label (unlabeled or mislabeled)
• Wrong container (anticoagulant or solution)
• Delay in transport
• Improper storage
• Leaking container
• Slides broken beyond repair

Fluorescence in situ hybridization (FISH)

Normal or Abnormal with interpretation

Medical necessity