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Test Directory PDGFRA Mutation Analysis

PDGFRA Mutation Analysis

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

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

Department

Reference Testing

Reference Range

Not detected

Setup Schedule / Expected Turnaround Time

Tuesday, Saturday; Report available: 4 - 8 days