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PDGFRA Mutation Analysis
Test Code16859
CPT Codes
81314
Preferred Specimen
Formalin-fixed paraffin embedded tissue collected in an IHC Specimen Transport Kit
Minimum Volume
1 mL bone marrow • 3 mL whole blood
Other Acceptable Specimens
3 mL bone marrow or 6 mL whole blood collected in: EDTA (lavender-top) tube
Instructions
For submission of whole blood: Follow standard whole blood collection procedure. Collect 5-6 mL whole blood samples in an EDTA tube. Blood samples are shipped at room temperature or 4° C. Do not freeze whole blood.
Record the draw time; also record sample type on the tube and patient ID on the requisition form. Ship immediately to maintain sample stability.
Record the draw time; also record sample type on the tube and patient ID on the requisition form. Ship immediately to maintain sample stability.
Transport Temperature
Room temperature
Specimen Stability
Formalin-fixed paraffin embedded tissue
Room temperature: Indefinite
Refrigerated: Indefinite
Frozen: Unacceptable
Whole blood and bone marrow
Room temperature: 7 days
Refrigerated: 14 days
Frozen: Unacceptable
Room temperature: Indefinite
Refrigerated: Indefinite
Frozen: Unacceptable
Whole blood and bone marrow
Room temperature: 7 days
Refrigerated: 14 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing
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: Tues, Sat; Report available: 3-7 days
Clinical Significance
Mutations in the PDGFRA gene are found in 5-8% of gastrointestinal stromal tumors (GISTs), especially in the 40-50% of KIT wild type GISTs. PDGFRA mutations also have been described in synovial sarcomas (SSs) and malignant peripheral nerve sheath tumors (MPNST).
KIT and PDGFRA mutations in GISTs cause a ligand- independent auto-activation of the receptor; therefore, mutation-positive GISTs are good candidates for tyrosine kinase inhibitor treatment. GISTs with PDGFRA mutations (except D842V) are likely to respond to imatinib therapy.
KIT and PDGFRA mutations in GISTs cause a ligand- independent auto-activation of the receptor; therefore, mutation-positive GISTs are good candidates for tyrosine kinase inhibitor treatment. GISTs with PDGFRA mutations (except D842V) are likely to respond to imatinib therapy.
