PDGFRA Mutation Analysis

PDGFRA Mutation Analysis

Test Code

16859
81314
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
16859
81314
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection is not available in your area through Quest Mobile.

Clinical Significance

PDGFRA Mutation Analysis - 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.

Test Resources

None found for this test
Please visit our Clinical Education Center to stay informed on any future publications, webinars, or other education opportunities.

Test Details

Methodology

Next Generation Sequencing

Assay Category

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.

Reference Range(s)

Not detected

Alternative Name(s)

Gastrointestinal Stromal Tumor,GIST,Platelet derived growth factor

LOINC® Codes, Performing Laboratory

Service Area must be determined

Methodology

Next Generation Sequencing
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.

Reference Range(s)

Not detected

Alternative Name(s)

Gastrointestinal Stromal Tumor,GIST,Platelet derived growth factor
Service Area must be determined

Preferred Specimen(s)

Formalin-fixed paraffin embedded tissue collected in an IHC Specimen Transport Kit

Alternative Specimen(s)

3 mL bone marrow or 6 mL whole blood collected in: EDTA (lavender-top) tube

Minimum Volume

1 mL bone marrow • 3 mL whole blood

Collection 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.

Transport Container

Paraffin block

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

Setup Schedule

Service Area must be determined
Formalin-fixed paraffin embedded tissue collected in an IHC Specimen Transport Kit
3 mL bone marrow or 6 mL whole blood collected in: EDTA (lavender-top) tube
1 mL bone marrow • 3 mL whole blood
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.
Paraffin block
Room temperature
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
Service Area must be determined
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection is not available in your area through Quest Mobile.
Test Details

Clinical Significance

Test Resources

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidance and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.

The tests listed by specialty and category are a select group of tests offered. For a complete list of Quest Diagnostics tests, please adjust the filter options chosen, or refer to our Directory of Services.

Customize the test information for your Service Area