PDGFRA Mutation Analysis
Order Code:
PDGMUT
Test Summary
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.
Aliases
- N/A
Specimen Collection
Special Instructions
N/A
Preferred Specimen
Formalin-fixed paraffin-embedded tissue collected in an IHC Specimen Transport Kit
Minimum Volume
3 mL whole blood • 1 mL bone marrow
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.
Patient Preparation
N/A
Storage
N/A
Transport Temperature
Room temperature
Specimen Stability
- Tissue block
- Room temperature: Indefinitely
- Refrigerated: Indefinitely
- Frozen: Unacceptable
- Whole blood and bone marrow
- Room temperature: 7 days
- Refrigerated: 14 days
- Froze
Limitations
N/A
Other Acceptable Specimens
6 mL whole blood or 3 mL bone marrow collected in an EDTA (lavender-top) tube
Unacceptable Specimens
N/A
Order Code
PDGMUT
EPIC (Premier) Code
LAB6382
Includes
N/A
CPT Code
- 81314
Billing Code
- 670866
CPT Statement
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 the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Physician Attestation of Informed Consent
N/A
Testing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano CA, 92675
33608 Ortega Highway
San Juan Capistrano CA, 92675
Department
Reference Testing
Reference Range
Not detected
Setup Schedule / Expected Turnaround Time
Tuesday, Saturday; Report available: 4 - 8 days
Specimen Collection
Special Instructions
N/A
Preferred Specimen
Formalin-fixed paraffin-embedded tissue collected in an IHC Specimen Transport Kit
Minimum Volume
3 mL whole blood • 1 mL bone marrow
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.
Patient Preparation
N/A
Storage
N/A
Transport Temperature
Room temperature
Specimen Stability
- Tissue block
- Room temperature: Indefinitely
- Refrigerated: Indefinitely
- Frozen: Unacceptable
- Whole blood and bone marrow
- Room temperature: 7 days
- Refrigerated: 14 days
- Froze
Limitations
N/A
Other Acceptable Specimens
6 mL whole blood or 3 mL bone marrow collected in an EDTA (lavender-top) tube
Unacceptable Specimens
N/A
Result Information
Methodology
Next Generation Sequencing
Testing Laboratory
N/A
Reference Range
Not detected
Setup Schedule / Expected Turnaround Time
Tuesday, Saturday; Report available: 4 - 8 days