FISH for PDGFR-A (Platelet-Derived Growth Factor Receptor-alpha)
In particular, the FIP1L1-PDGFRα fusion gene, resulting from a chromosomal rearrangement, is associated with hypereosinophilic syndrome/chronic eosinophilic leukemia (HES/CEL). Moreover, other rearrangements involving the PDGFR-A gene have been observed in gastrointestinal stromal tumors (GISTs), as well as other malignancies.
Fluorescence in situ hybridization (FISH) is a technique used to detect and visualize specific DNA sequences in cells by using fluorescent probes that bind to those sequences. For PDGFR-A, FISH is employed to detect rearrangements involving the PDGFR-A gene.
Test NameFISH for PDGFR-A (Platelet-Derived Growth Factor Receptor-alpha)
Sample TypeBlood, Bone Marrow
Preparations RequiredNo special preparation is needed for this test.
Report Time5 days
In this test, a sample of blood, bone marrow, or tissue is obtained from the patient. This sample is then fixed on slides, and the DNA is denatured so that it can hybridize with fluorescently labeled probes specific for the PDGFR-A gene.
These probes will bind to regions of the DNA where the PDGFR-A gene is located. Under a fluorescence microscope, the bound probes can be seen as fluorescent signals. The pattern of these signals helps to determine whether the PDGFR-A gene is rearranged.
Diagnosis: FISH for PDGFR-A can confirm the presence of rearrangements involving the PDGFR-A gene, aiding in the diagnosis of diseases such as HES/CEL and some cases of GISTs.
Prognosis: The presence of a PDGFR-A rearrangement may have prognostic implications in certain diseases. In some cases, it is associated with a more aggressive disease phenotype.
Treatment: The detection of PDGFR-A rearrangement is critical in guiding treatment decisions. For instance, patients with HES/CEL harboring the FIP1L1-PDGFRα fusion gene may respond to treatment with imatinib, a tyrosine kinase inhibitor.
Patients with malignancies associated with PDGFR-A rearrangements may benefit from targeted therapies that inhibit the PDGFR-A kinase activity. For instance, imatinib and other tyrosine kinase inhibitors have been used successfully in the treatment of HES/CEL with FIP1L1-PDGFRα.
Home Sample Collection Process
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Book your convenient slot
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Sample Collection by Phlebotomist
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Reporting of the sample at lab
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Download Reports
Frequently Asked Questions
A positive result indicates the presence of an abnormality involving the PDGFR-A gene. This can have diagnostic, prognostic, and therapeutic implications.
The sample can be obtained through a blood draw, bone marrow aspiration, or a tissue biopsy, depending on the suspected condition.
There are minimal risks associated with blood draws and tissue biopsies. There may be discomfort, bruising, and in rare cases, infection.
It generally takes 7-10 days to receive the results from a FISH for PDGFR-A test.
PDGFR-A rearrangements are typically not inherited but are acquired changes that occur in the cells during an individual’s lifetime.
FISH for PDGFR-A is an essential diagnostic tool for detecting gene rearrangements involving PDGFR-A, which is implicated in various malignancies. This test is crucial for establishing an accurate diagnosis and guiding targeted therapy. Continued research into the role of PDGFR-A in cancer will further refine the clinical utility of this testing in the management of patients with cancers involving the PDGFR-A gene. As always, patients and caregivers should communicate with their healthcare professionals for the most current and comprehensive advice concerning the diagnosis and management of conditions associated with PDGFR-A rearrangements.
FISH for PDGFR ? A (Platelet Derived Growth Factor Receptor ? alpha)
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